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
CEACAM20_chr19_44501159_44534675	44532534	GGAAAGAA others(31): Show GGAAAGAAAGGAAAGAAAGGAAGAAAGAAAGAAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG02055.hp2 others(13): Show HG00323.hp1 HG00408.hp1 HG02055.hp2 HG02155.hp2 HG02486.hp2 HG02523.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp1 NA18986.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2	a0003 a0004 a0006 others(3): Show a0003 a0004 a0006 a0023 a0031 a0033	a0003c0004 a0004c0003 a0004c0011 others(4): Show a0003c0004 a0004c0003 a0004c0011 a0006c0010 a0023c0029 a0031c0042 a0033c0037	a0003c0004t0001 a0004c0003t0001 a0004c0011t0001 others(4): Show a0003c0004t0001 a0004c0003t0001 a0004c0011t0001 a0006c0010t0001 a0023c0029t0001 a0031c0042t0001 a0033c0037t0001	a0003c0004t0001g0026 a0004c0003t0001g0348 a0004c0003t0001g0380 others(13): Show a0003c0004t0001g0026 a0004c0003t0001g0348 a0004c0003t0001g0380 a0004c0003t0001g0382 a0004c0003t0001g0383 a0004c0003t0001g0394 a0004c0003t0001g0395 a0004c0003t0001g0396 a0004c0011t0001g0093 a0006c0010t0001g0123 a0006c0010t0001g0125 a0006c0010t0001g0128 a0023c0029t0001g0117 a0023c0029t0001g0121 a0031c0042t0001g0398 a0033c0037t0001g0076	16	438	0.0365	-38	c.-30 others(49): Show c.-3063_-3026delTTTCTTTTCTTTCTTTCTTCCTTTCTTTCCTTTC TTTC	CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding		2860		chr19	TogoVar
CECR2_chr22_17364460_17563151	17419530	AGGAAGAG others(31): Show AGGAAGAGGAAGAGGAAGAGGAGGAGGAGGAGGAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0166 a0001c0001t0015g0166	1	324	0.0031	-38	c.126 others(57): Show c.126+49622_126+49659delGGAAGAGGAAGAGGAAGAGGAGGAGG AGGAGGAGGAAG	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18			chr22	TogoVar
CEP128_chr14_80491479_80946738	80656275	TTATTTAT others(31): Show TTATTTATATATATATTTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp2 NA18995.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0046 a0001c0001t0002g0106 a0001c0001t0001g0046 a0001c0001t0002g0106	2	164	0.0122	-38	c.280 others(59): Show c.2807-75890_2807-75853delTATATATATATATATATATATAAA TATATATATAAATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80656279	TTATATAT others(31): Show TTATATATATATTTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0007 a0010c0017t0001g0007	1	164	0.0061	-38	c.280 others(59): Show c.2807-75894_2807-75857delTATATATATATATATATATATATA TAAATATATATATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP72_chr5_607340_658553	631840	ACCAGTCC others(31): Show ACCAGTCCTGGTGGGGTTCTGTCCAGTGCTGGATTTGAC	A A	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	91	0.0110	-38	c.513 others(55): Show c.513-1900_513-1863delTGGATTTGACCCAGTCCTGGTGGGGTTC TGTCCAGTGC	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	651142	GACTGAGG others(31): Show GACTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0014 a0003c0005t0002g0014	1	91	0.0110	-38	c.177 others(57): Show c.1779-1841_1779-1804delAGGCGTGGACTGTGAGGTGTGACTGT GAGGTGTTACTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CERKL_chr2_181531672_181662105	181641308	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18977.hp1 NA19010.hp2 HG01943.hp1 NA18977.hp1 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0002c0003t0004 a0001c0002t0003 a0002c0003t0004	a0001c0002t0003g0039 a0001c0002t0003g0040 a0002c0003t0004g0013 a0001c0002t0003g0039 a0001c0002t0003g0040 a0002c0003t0004g0013	3	298	0.0101	-38	c.238 others(57): Show c.238+15423_238+15460delGTATATATATATATATATATATATAT ATATATATATAT	CERKL	ENSG00000188452.15	transcript	ENST00000410087.8	protein_coding	1/12			chr2	TogoVar
CERS3_chr15_100395395_100533950	100467852	TAGATAGA others(31): Show TAGATAGATAGATAGATAGATAGATAGATATAGATATAG	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0301 a0001c0001t0023g0301	1	362	0.0028	-38	c.845 others(55): Show c.845+1488_845+1525delCTATATCTATATCTATCTATCTATCTAT CTATCTATCT	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11			chr15	TogoVar
CERS3_chr15_100395395_100533950	100494221	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0035 a0002c0002t0035	a0002c0002t0035g0024 a0002c0002t0035g0024	1	362	0.0028	-38	c.174 others(55): Show c.174-3328_174-3291delAATATATATATATATATATATATATATA TATATATATA	CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	3/11			chr15	TogoVar
CERS4_chr19_8204370_8267421	8210602	ACTGGGGC others(31): Show ACTGGGGCGACCTGGGTCTGTTATATGGGGATAGGGTTC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02922.hp1 HG03130.hp1 others(1): Show HG02109.hp1 HG02922.hp1 HG03130.hp1 HG03195.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0003 a0001c0001t0001 a0003c0007t0003	a0001c0001t0001g0125 a0003c0007t0003g0126 a0003c0007t0003g0127 others(1): Show a0001c0001t0001g0125 a0003c0007t0003g0126 a0003c0007t0003g0127 a0003c0007t0003g0128	4	418	0.0096	-38	c.-15 others(53): Show c.-158-99_-158-62delGGCGACCTGGGTCTGTTATATGGGGATAGG GTTCCTGG	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CFAP144_chr1_43142904_43161396	43154375	TATGTACA others(31): Show TATGTACATATACACACACATATATGTATACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01192.hp2 HG01257.hp1 others(22): Show HG01069.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02280.hp2 HG02622.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03225.hp1 HG03471.hp2 HG03516.hp2 HG06807.hp2 NA18906.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0041 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0002c0004t0001g0076	25	396	0.0631	-38	c.297 others(55): Show c.297+1445_297+1482delATGTACATATACACACACATATATGTAT ACATATATAC	CFAP144	ENSG00000186973.11	transcript	ENST00000335282.5	protein_coding	3/3			chr1	TogoVar
CFAP161_chr15_81129270_81154179	81146831	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02630.hp2 HG02818.hp1 others(5): Show HG01496.hp2 HG02630.hp2 HG02818.hp1 HG02970.hp1 HG02970.hp2 HG03139.hp2 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0065 a0001c0001t0001g0106 a0001c0001t0001g0142 others(1): Show a0001c0001t0001g0065 a0001c0001t0001g0106 a0001c0001t0001g0142 a0001c0001t0002g0011	8	448	0.0179	-38	c.637 others(54): Show c.637-1012_637-975delATATATATATATATATATATATATATATA TATATATAT	CFAP161	ENSG00000156206.14	transcript	ENST00000286732.5	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
CFAP206_chr6_87402972_87469465	87408455	TGCGCACA others(31): Show TGCGCACACAGATCCGGAGCGCGCACACAGATCCGGAGC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18906.hp2 NA18954.hp2 HG03225.hp1 NA18906.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0325 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0001g0325 a0001c0001t0002g0028 a0001c0001t0002g0029	3	376	0.0080	-38	c.-6+ others(51): Show c.-6+484_-6+521delCACACAGATCCGGAGCGCGCACACAGATCCGG AGCGCG	CFAP206	ENSG00000272514.6	transcript	ENST00000369562.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CFAP251_chr12_121913592_122008919	121928657	CGTATATA others(31): Show CGTATATATATACGTATATATATATATATATACGTATAT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0332 a0003c0003t0001g0332	1	354	0.0028	-38	c.748 others(55): Show c.748-3088_748-3051delGTATATATATACGTATATATATATATAT ATACGTATAT	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	3/21			chr12	TogoVar
CFAP251_chr12_121913592_122008919	121928658	GTATATAT others(31): Show GTATATATATACGTATATATATATATATATACGTATATA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01243.hp1 HG02572.hp2 others(2): Show HG01099.hp2 HG01243.hp1 HG02572.hp2 HG02895.hp2 HG03453.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0010 a0003c0003 a0008c0010	a0003c0003t0001 a0008c0010t0001 a0003c0003t0001 a0008c0010t0001	a0003c0003t0001g0330 a0003c0003t0001g0333 a0003c0003t0001g0334 others(2): Show a0003c0003t0001g0330 a0003c0003t0001g0333 a0003c0003t0001g0334 a0008c0010t0001g0217 a0008c0010t0001g0329	5	354	0.0141	-38	c.748 others(55): Show c.748-3078_748-3041delACGTATATATATATATATATACGTATAT ATATATATAT	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP251_chr12_121913592_122008919	121928668	ACGTATAT others(31): Show ACGTATATATATATATATATACGTATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(28): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01515.hp2 HG01517.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG02148.hp1 HG02451.hp1 HG02602.hp1 HG02683.hp2 HG03098.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG04204.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0003 a0013 a0003 a0013	a0003c0003 a0013c0016 a0003c0003 a0013c0016	a0003c0003t0001 a0013c0016t0001 a0003c0003t0001 a0013c0016t0001	a0003c0003t0001g0057 a0003c0003t0001g0087 a0003c0003t0001g0088 others(28): Show a0003c0003t0001g0057 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0001g0089 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0096 a0003c0003t0001g0097 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0106 a0003c0003t0001g0107 a0003c0003t0001g0108 a0003c0003t0001g0109 a0003c0003t0001g0110 a0003c0003t0001g0319 a0003c0003t0001g0320 a0003c0003t0001g0321 a0003c0003t0001g0322 a0003c0003t0001g0323 a0003c0003t0001g0325 a0003c0003t0001g0331 a0013c0016t0001g0098	31	354	0.0876	-38	c.748 others(55): Show c.748-3077_748-3040delCGTATATATATATATATATACGTATATA TATATATATT	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	3/21			chr12	TogoVar
CFAP251_chr12_121913592_122008919	121956383	GATATACC others(31): Show GATATACCTGGGTTCCTTGCATAGTCAAGCCACATGGCC	G G	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0060 a0003c0009t0001g0060	1	354	0.0028	-38	c.153 others(55): Show c.1536-690_1536-653delATATACCTGGGTTCCTTGCATAGTCAAG CCACATGGCC	CFAP251	ENSG00000158023.10	transcript	ENST00000288912.9	protein_coding	10/21			chr12	TogoVar
CFAP299_chr4_80330730_80968750	80390920	CATATGTA others(31): Show CATATGTATATATGTATATATGTATGTACACACATGTAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00639.hp2 others(16): Show HG00423.hp1 HG00597.hp1 HG00639.hp2 HG00738.hp2 HG01168.hp2 HG02040.hp2 HG02071.hp1 HG02451.hp2 HG02615.hp2 HG03017.hp1 NA18957.hp1 NA18963.hp2 NA18964.hp2 NA18983.hp1 NA18984.hp2 NA18998.hp2 NA19005.hp1 NA19060.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0002c0007t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(16): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0004t0001g0061 a0002c0002t0001g0068 a0002c0002t0001g0075 a0002c0007t0001g0047	19	96	0.1979	-38	c.242 others(57): Show c.242+28053_242+28090delATATGTATGTACACACATGTATATAT GTATATATGTAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP46_chr10_132803392_132947570	132826136	AGAGACCA others(31): Show AGAGACCAGCCACGGAGCCAGGCAGGAGCCGGAGCCACG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp2 HG01074.hp2 others(15): Show HG00642.hp1 HG00673.hp2 HG01074.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01517.hp2 HG01884.hp2 HG01993.hp2 HG02129.hp1 HG02145.hp1 HG02300.hp1 HG02559.hp2 HG03239.hp2 HG03669.hp1 HG03688.hp2 HG04184.hp1 NA18945.hp1	a0000 a0006 a0014 others(6): Show a0000 a0006 a0014 a0016 a0020 a0039 a0048 a0050 a0066	a0000c0087 a0006c0004 a0014c0014 others(6): Show a0000c0087 a0006c0004 a0014c0014 a0016c0095 a0020c0017 a0039c0046 a0048c0107 a0050c0104 a0066c0077	a0000c0087t0002 a0006c0004t0002 a0014c0014t0002 others(6): Show a0000c0087t0002 a0006c0004t0002 a0014c0014t0002 a0016c0095t0002 a0020c0017t0001 a0039c0046t0001 a0048c0107t0002 a0050c0104t0001 a0066c0077t0001	a0000c0087t0002g0112 a0006c0004t0002g0027 a0006c0004t0002g0106 others(15): Show a0000c0087t0002g0112 a0006c0004t0002g0027 a0006c0004t0002g0106 a0006c0004t0002g0107 a0006c0004t0002g0108 a0006c0004t0002g0109 a0006c0004t0002g0110 a0006c0004t0002g0111 a0006c0004t0002g0113 a0006c0004t0002g0116 a0014c0014t0002g0083 a0016c0095t0002g0114 a0020c0017t0001g0147 a0020c0017t0001g0148 a0039c0046t0001g0144 a0048c0107t0002g0103 a0050c0104t0001g0236 a0066c0077t0001g0127	18	246	0.0732	-38	c.711 others(57): Show c.7117+7184_7117+7221delCGTGGCTCCGGCTCCTGCCTGGCTCC GTGGCTGGTCTC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132887161	TCTCTTCT others(31): Show TCTCTTCTTTCCTCTCCCCTCTTCTCTCTCTCCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG02615.hp1 others(1): Show HG02258.hp1 HG02572.hp2 HG02615.hp1 HG02809.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0130 a0010c0011t0001g0240 a0010c0011t0001g0241 others(1): Show a0010c0011t0001g0130 a0010c0011t0001g0240 a0010c0011t0001g0241 a0010c0011t0001g0242	4	246	0.0163	-38	c.330 others(57): Show c.3305-1240_3305-1203delGAGAGAGGAGAGAGAGAAGAGGGGAG AGGAAAGAAGAG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132923269	TGAGCAGC others(31): Show TGAGCAGCCATGTGGGGGTGCCCTGGAACCCCTGGCCTC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0057 a0057	a0057c0088 a0057c0088	a0057c0088t0002 a0057c0088t0002	a0057c0088t0002g0042 a0057c0088t0002g0042	1	246	0.0041	-38	c.125 others(55): Show c.1257-599_1257-562delGAGGCCAGGGGTTCCAGGGCACCCCCAC ATGGCTGCTC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	11/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132923449	CCCCCTGG others(31): Show CCCCCTGGCCTTGAGCAGCCATGTGGGGGTGCCCTGGAA	C C	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0002 a0001c0032t0002	a0001c0032t0002g0040 a0001c0032t0002g0040	1	246	0.0041	-38	c.125 others(55): Show c.1257-779_1257-742delTTCCAGGGCACCCCCACATGGCTGCTCA AGGCCAGGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	11/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	35923871	ATGTATAT others(31): Show ATGTATATATGTACATATATATGTGTATATATGTACATG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01884.hp1 HG02055.hp1 others(15): Show HG01346.hp2 HG01884.hp1 HG02055.hp1 HG02109.hp1 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02818.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03453.hp2 HG03516.hp2 HG06807.hp1 NA18906.hp1 NA19043.hp1 NA19240.hp1	a0005 a0006 a0011 others(9): Show a0005 a0006 a0011 a0012 a0015 a0016 a0024 a0030 a0032 a0033 a0034 a0038	a0005c0005 a0006c0008 a0006c0028 others(11): Show a0005c0005 a0006c0008 a0006c0028 a0006c0048 a0011c0046 a0012c0027 a0015c0018 a0016c0031 a0024c0025 a0030c0033 a0032c0035 a0033c0036 a0034c0037 a0038c0042	a0005c0005t0001 a0006c0008t0001 a0006c0028t0001 others(11): Show a0005c0005t0001 a0006c0008t0001 a0006c0028t0001 a0006c0048t0001 a0011c0046t0001 a0012c0027t0001 a0015c0018t0001 a0016c0031t0002 a0024c0025t0005 a0030c0033t0001 a0032c0035t0001 a0033c0036t0001 a0034c0037t0001 a0038c0042t0001	a0005c0005t0001g0008 a0005c0005t0001g0009 a0005c0005t0001g0012 others(15): Show a0005c0005t0001g0008 a0005c0005t0001g0009 a0005c0005t0001g0012 a0005c0005t0001g0013 a0006c0008t0001g0188 a0006c0008t0001g0189 a0006c0028t0001g0186 a0006c0048t0001g0001 a0011c0046t0001g0187 a0012c0027t0001g0005 a0015c0018t0001g0007 a0016c0031t0002g0202 a0024c0025t0005g0182 a0030c0033t0001g0016 a0032c0035t0001g0015 a0033c0036t0001g0010 a0034c0037t0001g0014 a0038c0042t0001g0011	18	216	0.0833	-38	c.250 others(55): Show c.250-2088_250-2051delATGTGTATATATGTACATGTGTATATAT GTACATATAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP54_chr12_96484577_96880555	96512299	TTTTATAT others(31): Show TTTTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01081.hp2 HG01099.hp1 others(26): Show HG00423.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01168.hp1 HG01496.hp2 HG01891.hp2 HG02145.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02735.hp1 HG02886.hp1 HG02895.hp2 HG02976.hp1 HG03540.hp1 HG03654.hp1 HG03704.hp1 HG03942.hp2 NA18942.hp1 NA18949.hp1 NA18966.hp1 NA18968.hp2 NA18983.hp1 NA19054.hp1 NA19058.hp1 NA19064.hp2 NA19065.hp1 NA19090.hp1	a0007 a0009 a0010 others(7): Show a0007 a0009 a0010 a0012 a0015 a0017 a0028 a0033 a0062 a0063	a0007c0019 a0007c0028 a0007c0071 others(12): Show a0007c0019 a0007c0028 a0007c0071 a0007c0077 a0009c0008 a0010c0013 a0012c0021 a0012c0097 a0015c0030 a0015c0100 a0017c0066 a0028c0079 a0033c0076 a0062c0098 a0063c0099	a0007c0019t0001 a0007c0028t0001 a0007c0071t0001 others(13): Show a0007c0019t0001 a0007c0028t0001 a0007c0071t0001 a0007c0077t0001 a0009c0008t0001 a0010c0013t0001 a0012c0021t0001 a0012c0097t0001 a0015c0030t0001 a0015c0030t0003 a0015c0100t0001 a0017c0066t0001 a0028c0079t0001 a0033c0076t0001 a0062c0098t0001 a0063c0099t0003	a0007c0019t0001g0190 a0007c0028t0001g0181 a0007c0028t0001g0182 others(26): Show a0007c0019t0001g0190 a0007c0028t0001g0181 a0007c0028t0001g0182 a0007c0071t0001g0180 a0007c0077t0001g0183 a0009c0008t0001g0197 a0009c0008t0001g0198 a0009c0008t0001g0199 a0009c0008t0001g0200 a0009c0008t0001g0201 a0009c0008t0001g0202 a0009c0008t0001g0206 a0009c0008t0001g0207 a0010c0013t0001g0185 a0010c0013t0001g0187 a0010c0013t0001g0188 a0010c0013t0001g0189 a0012c0021t0001g0203 a0012c0021t0001g0204 a0012c0021t0001g0205 a0012c0097t0001g0196 a0015c0030t0001g0193 a0015c0030t0003g0192 a0015c0100t0001g0194 a0017c0066t0001g0186 a0028c0079t0001g0184 a0033c0076t0001g0179 a0062c0098t0001g0208 a0063c0099t0003g0195	29	268	0.1082	-38	c.740 others(53): Show c.740-685_740-648delTTATATATATATATATATATATATATATAT ATATATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	4/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96827376	TGTGATTA others(31): Show TGTGATTATATATAGTGTGCAGTTATATGTGATTATATA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0041 a0041	a0041c0038 a0041c0038	a0041c0038t0001 a0041c0038t0001	a0041c0038t0001g0191 a0041c0038t0001g0191	1	268	0.0037	-38	c.909 others(57): Show c.9097-1637_9097-1600delGTGATTATATATAGTGTGCAGTTATA TGTGATTATATA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67			chr12	TogoVar
CFAP58_chr10_104348833_104460102	104396402	GAGAGAGA others(31): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	308	0.0033	-38	c.167 others(57): Show c.1674+2941_1675-2907delGAGAGAGAGAGAGAGAGAGAGAGAAA GAGAGAGAGAGA	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP61_chr20_20047532_20365698	20189445	AGATCTGT others(31): Show AGATCTGTACTTACGACGCATAAGTACATATGTACTTAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG00738.hp1 others(25): Show HG00323.hp1 HG00735.hp2 HG00738.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01884.hp2 HG01975.hp1 HG02071.hp1 HG02080.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03490.hp1 HG03579.hp2 NA18962.hp2 NA18966.hp1 NA19030.hp2 NA20129.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0008 a0012 a0018	a0001c0001 a0001c0003 a0002c0002 others(6): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0009 a0006c0011 a0008c0020 a0012c0019 a0018c0036	a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 others(12): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0002c0002t0001 a0002c0004t0001 a0002c0004t0003 a0002c0004t0006 a0002c0009t0001 a0002c0009t0002 a0002c0009t0003 a0006c0011t0002 a0006c0011t0003 a0008c0020t0002 a0012c0019t0003 a0018c0036t0003	a0001c0001t0002g0063 a0001c0001t0002g0075 a0001c0001t0003g0095 others(25): Show a0001c0001t0002g0063 a0001c0001t0002g0075 a0001c0001t0003g0095 a0001c0003t0001g0211 a0001c0003t0001g0221 a0002c0002t0001g0088 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0179 a0002c0002t0001g0226 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0004t0001g0215 a0002c0004t0003g0207 a0002c0004t0006g0020 a0002c0009t0001g0105 a0002c0009t0002g0104 a0002c0009t0002g0106 a0002c0009t0003g0107 a0006c0011t0002g0117 a0006c0011t0003g0089 a0006c0011t0003g0098 a0008c0020t0002g0123 a0012c0019t0003g0120 a0018c0036t0003g0094	28	236	0.1186	-38	c.151 others(57): Show c.1512+1402_1512+1439delCGACGCATAAGTACATATGTACTTAT GATCTGTACTTA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20355163	ACTGTGAG others(31): Show ACTGTGAGAGGGGAGAAGGTCACACTAAGGGGAGGTAGT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG02145.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0022 a0002c0002t0001g0023	2	236	0.0085	-38	c.351 others(57): Show c.3514-5045_3514-5008delTGTGAGAGGGGAGAAGGTCACACTAA GGGGAGGTAGTC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20355430	GGGAGGTG others(31): Show GGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGA	G G	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	236	0.0042	-38	c.351 others(57): Show c.3514-4777_3514-4740delAGGTGGTCACACTGTGAGGGGAGGTG GTCACACTGAGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357025	GGTGGTCA others(31): Show GGTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0202 a0001c0003t0001g0202	1	236	0.0042	-38	c.351 others(57): Show c.3514-3147_3514-3110delAGTGGTCACACTGAGAGGAGGTGGTC ACACTGAGGGGA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP70_chr10_73248762_73363864	73284739	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03516.hp1 HG01891.hp2 HG03516.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0008 a0003c0003t0002g0009 a0003c0003t0002g0008 a0003c0003t0002g0009	2	220	0.0091	-38	c.245 others(57): Show c.2450-6440_2450-6403delATATATATATATATATATATATATAT ATATATATATAT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	20/27			chr10	TogoVar
CFAP77_chr9_132405211_132578319	132486028	ATATATAT others(31): Show ATATATATATATATGTATGTATATGTATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02074.hp2 HG03209.hp1 others(4): Show HG01081.hp2 HG02074.hp2 HG03209.hp1 HG04115.hp1 NA18963.hp1 NA19043.hp2 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0019	a0001c0001t0001 a0001c0002t0002 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0019t0001	a0001c0001t0001g0177 a0001c0001t0001g0233 a0001c0002t0002g0003 others(4): Show a0001c0001t0001g0177 a0001c0001t0001g0233 a0001c0002t0002g0003 a0002c0003t0001g0031 a0002c0003t0001g0213 a0002c0003t0002g0180 a0002c0019t0001g0111	7	322	0.0217	-38	c.196 others(57): Show c.196-12653_196-12616delGTATGTATATGTATGTGTGTGTGTGT ATATATATATAT	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CHCHD2_chr7_56096573_56111476	56109011	GGGGTAGA others(31): Show GGGGTAGAATTGAGTACAGTGTGCTATTATTTGTGTAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	442	0.0023	-38	c.-26 others(49): Show c.-2636_-2599delTTTACACAAATAATAGCACACTGTACTCAATTCT ACCC	CHCHD2	ENSG00000106153.13	transcript	ENST00000395422.4	protein_coding		2536		chr7	TogoVar
CHIA_chr1_111285851_111325563	111318293	TGCAAGTG others(31): Show TGCAAGTGTCTCACTTAAACAACTGTCCTCAAGTTGATC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	426	0.0024	-38	c.729 others(53): Show c.729+186_730-161delCAAGTGTCTCACTTAAACAACTGTCCTCAA GTTGATCG	CHIA	ENSG00000134216.19	transcript	ENST00000369740.6	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHID1_chr11_862859_915810	896459	AAGGCTGT others(31): Show AAGGCTGTCTCAGCACCCCCAGCCTCCACCCCAGACATG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG03486.hp2 HG01943.hp1 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0037 a0002c0002t0001g0198 a0002c0002t0001g0037 a0002c0002t0001g0198	2	386	0.0052	-38	c.608 others(55): Show c.608+2843_608+2880delCATGTCTGGGGTGGAGGCTGGGGGTGCT GAGACAGCCT	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	7/12			chr11	TogoVar
CHID1_chr11_862859_915810	896495	ATGAGGCT others(31): Show ATGAGGCTGTCTCAGCACCCCCAGCCTCCACCCCAGACG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG06807.hp2 NA20805.hp1 HG03710.hp2 HG06807.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0002c0002t0001g0247 a0001c0001t0001g0101 a0001c0001t0001g0102 a0002c0002t0001g0247	3	386	0.0078	-38	c.608 others(55): Show c.608+2807_608+2844delCGTCTGGGGTGGAGGCTGGGGGTGCTGA GACAGCCTCA	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	7/12			chr11	TogoVar
CHID1_chr11_862859_915810	896867	ACTCCACC others(31): Show ACTCCACCCCAGACACGAGCCTGTCTCAGCACCCCCAGC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02145.hp2 HG02647.hp2 HG01192.hp1 HG02145.hp2 HG02647.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0024 a0001c0001t0001 a0002c0002t0024	a0001c0001t0001g0091 a0001c0001t0001g0238 a0002c0002t0024g0270 a0001c0001t0001g0091 a0001c0001t0001g0238 a0002c0002t0024g0270	3	386	0.0078	-38	c.608 others(55): Show c.608+2435_608+2472delGCTGGGGGTGCTGAGACAGGCTCGTGTC TGGGGTGGAG	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	7/12			chr11	TogoVar
CHMP4A_chr14_24204615_24218488	24212174	ACCTCCGC others(31): Show ACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAG	A A	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	418	0.0024	-38	c.32- others(51): Show c.32-383_32-346delCTGAGGCAGGAGAATTGCTTGAACCCAGGAGG CGGAGG	CHMP4A	ENSG00000254505.11	transcript	ENST00000347519.12	protein_coding	1/5			chr14	TogoVar
CHMP6_chr17_80986841_81005133	80994773	GGGGGGCC others(31): Show GGGGGGCCCGGGCAGCGTGGGCACCCTGTCGGCTGGGGT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	438	0.0023	-38	c.173 others(52): Show c.173+89_173+126delCCCGGGCAGCGTGGGCACCCTGTCGGCTGGG GTGGGGG	CHMP6	ENSG00000176108.9	transcript	ENST00000325167.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
CHM_chrX_85856180_86052558	86021136	ATATATAT others(31): Show ATATATATATATATATATATATACACGTATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0145 a0001c0001t0015g0146 a0001c0001t0015g0145 a0001c0001t0015g0146	2	245	0.0082	-38	c.116 others(55): Show c.116+6317_116+6354delCACATATATATACGTGTATATATATATA TATATATATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	2/14			chrX	TogoVar
CHODL_chr21_18239833_18272370	18248627	ATATAATA others(31): Show ATATAATACATATATGTATATATTATATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	402	0.0025	-38	c.79+ others(53): Show c.79+3368_79+3405delATACATATATGTATATATTATATACATATA TATGTATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHRDL1_chrX_110668856_110800817	110669052	TTATATAT others(31): Show TTATATATATATATATTTATATATATATTTATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0003 a0001c0001t0036g0003	1	172	0.0058	-38	c.71 others(49): Show c.7141_*7178delTATATATATAAATATATATATAAATATATATATA TATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding		4803		chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110697814	CCACACAC others(31): Show CCACACACACACACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03516.hp1 NA20129.hp1 HG03453.hp1 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0044 a0001c0001t0020 a0001c0001t0044	a0001c0001t0020g0167 a0001c0001t0020g0168 a0001c0001t0044g0166 a0001c0001t0020g0167 a0001c0001t0020g0168 a0001c0001t0044g0166	3	172	0.0174	-38	c.609 others(55): Show c.609+2802_609+2839delTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTG	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	7/11			chrX	TogoVar
CHRFAM7A_chr15_30355566_30398540	30392351	AAACACAA others(31): Show AAACACAAAAGTTAGCCAGGCCTGGTGGCGGGCGCCTGT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0096 a0001c0001t0004g0096	1	133	0.0075	-38	c.-15 others(55): Show c.-157+863_-157+900delACAGGCGCCCGCCACCAGGCCTGGCTAA CTTTTGTGTT	CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding	1/9			chr15	TogoVar
CHRNA10_chr11_3660587_3676384	3663066	ATCTCATC others(31): Show ATCTCATCTCATCATCTCATCTCATCATCTCATCTCATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0010 a0001c0003t0002g0010	1	450	0.0022	-38	c.30 others(49): Show c.3003_*3040delGATGAGATGAGATGATGAGATGAGATGATGAGAT GAGA	CHRNA10	ENSG00000129749.3	transcript	ENST00000250699.2	protein_coding		2520		chr11	TogoVar
CHRNA7_chr15_32025515_32178018	32114023	TATATATA others(31): Show TATATATATATATATATATATGTATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0260 a0001c0002t0002g0260	1	307	0.0033	-38	c.350 others(55): Show c.350+2140_350+2177delTATATGTATATATATATATATACATATA TATATATATA	CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNA7_chr15_32025515_32178018	32177481	TCTTTTTT others(31): Show TCTTTTTTATTGAAATCGATTTCTTACTAACTTCTTACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0192 a0001c0002t0005g0192	1	307	0.0033	-38	c.90 others(49): Show c.9024_*9061delCTTTTTTATTGAAATCGATTTCTTACTAACTTCT TACA	CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding		4464		chr15	TogoVar
CHRNB4_chr15_78619111_78646210	78632195	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTCTTTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0004 a0005c0008t0004	a0005c0008t0004g0055 a0005c0008t0004g0055	1	416	0.0024	-38	c.205 others(53): Show c.205-901_205-864delGAGAGAGAGAGAGAGAAAGAGAAAGAAAGA AAGAAAGA	CHRNB4	ENSG00000117971.12	transcript	ENST00000261751.8	protein_coding	2/5			chr15	TogoVar
CHRNB4_chr15_78619111_78646210	78632211	TTCTCTTT others(31): Show TTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03486.hp2 HG04228.hp2 others(1): Show HG02723.hp2 HG03486.hp2 HG04228.hp2 NA18999.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0002 a0002c0002t0001 a0002c0002t0002 a0001c0006t0002 a0002c0002t0001 a0002c0002t0002	a0001c0006t0002g0125 a0002c0002t0001g0173 a0002c0002t0002g0162 others(1): Show a0001c0006t0002g0125 a0002c0002t0001g0173 a0002c0002t0002g0162 a0002c0002t0002g0182	4	416	0.0096	-38	c.205 others(53): Show c.205-917_205-880delGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAAAGAGA	CHRNB4	ENSG00000117971.12	transcript	ENST00000261751.8	protein_coding	2/5			chr15	TogoVar
CIB4_chr2_26576205_26646366	26585260	TGGAGCCA others(31): Show TGGAGCCACCCTGGGATGCCAGGCAGGGACAGCAGCAGA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01346.hp1 HG03041.hp1 others(2): Show HG00738.hp2 HG01346.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0004g0275 a0002c0002t0002g0069 a0002c0002t0002g0070 others(2): Show a0001c0001t0004g0275 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072	5	344	0.0145	-38	c.329 others(55): Show c.329-1400_329-1363delTCTGCTGCTGTCCCTGCCTGGCATCCCA GGGTGGCTCC	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar

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