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
ABTB3_chr12_107313434_107664642	107482965	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02257.hp1 HG02615.hp1 others(2): Show HG00621.hp2 HG02257.hp1 HG02615.hp1 HG03225.hp1 HG03471.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0008 a0001c0001 a0002c0002 a0003c0008	a0001c0001t0002 a0002c0002t0012 a0003c0008t0001 a0001c0001t0002 a0002c0002t0012 a0003c0008t0001	a0001c0001t0002g0093 a0002c0002t0012g0180 a0003c0008t0001g0021 others(2): Show a0001c0001t0002g0093 a0002c0002t0012g0180 a0003c0008t0001g0021 a0003c0008t0001g0049 a0003c0008t0001g0052	5	186	0.0269	-28	c.113 others(49): Show c.1136-37518_1136-37491delTTTCTTTCTTTCTTTCTTTCCTTC CTTC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107482973	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp2 HG02895.hp2 HG02630.hp2 HG02647.hp2 HG02895.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0036 a0004c0005t0008 a0004c0005t0013 a0002c0002t0036 a0004c0005t0008 a0004c0005t0013	a0002c0002t0036g0170 a0004c0005t0008g0012 a0004c0005t0013g0163 a0002c0002t0036g0170 a0004c0005t0008g0012 a0004c0005t0013g0163	3	186	0.0161	-28	c.113 others(49): Show c.1136-37510_1136-37483delTTTCTTTCTTTCCTTCCTTCCTTC CTTC	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109140228	TTCCTTCC others(21): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCA	T T	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp2 HG03492.hp2 others(3): Show HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp2 HG04115.hp2	a0001 a0002 a0041 a0001 a0002 a0041	a0001c0003 a0002c0006 a0002c0014 others(1): Show a0001c0003 a0002c0006 a0002c0014 a0041c0116	a0001c0003t0002 a0002c0006t0003 a0002c0014t0003 others(1): Show a0001c0003t0002 a0002c0006t0003 a0002c0014t0003 a0041c0116t0003	a0001c0003t0002g0103 a0001c0003t0002g0112 a0002c0006t0003g0194 others(3): Show a0001c0003t0002g0103 a0001c0003t0002g0112 a0002c0006t0003g0194 a0002c0014t0003g0113 a0002c0014t0003g0303 a0041c0116t0003g0069	6	308	0.0195	-28	c.653 others(43): Show c.653+185_653+212delCTTCCTTCCTTCCATCCTTCCTTCCTTC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109140256	ATCCTTCC others(21): Show ATCCTTCCTTCCTTCTTTCCTTCCTTCCT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00642.hp1 others(16): Show HG00099.hp2 HG00639.hp2 HG00642.hp1 HG01168.hp1 HG01169.hp2 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02818.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03239.hp2 HG03579.hp1 HG03579.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0009 others(2): Show a0001 a0002 a0009 a0013 a0036	a0001c0002 a0001c0003 a0001c0004 others(9): Show a0001c0002 a0001c0003 a0001c0004 a0001c0105 a0001c0106 a0001c0109 a0002c0006 a0002c0092 a0002c0117 a0009c0096 a0013c0033 a0036c0094	a0001c0002t0001 a0001c0003t0002 a0001c0003t0004 others(11): Show a0001c0002t0001 a0001c0003t0002 a0001c0003t0004 a0001c0004t0017 a0001c0105t0004 a0001c0106t0001 a0001c0109t0002 a0002c0006t0003 a0002c0006t0005 a0002c0092t0010 a0002c0117t0003 a0009c0096t0009 a0013c0033t0002 a0036c0094t0004	a0001c0002t0001g0085 a0001c0002t0001g0282 a0001c0002t0001g0283 others(16): Show a0001c0002t0001g0085 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0003t0002g0068 a0001c0003t0004g0074 a0001c0004t0017g0003 a0001c0105t0004g0296 a0001c0106t0001g0293 a0001c0109t0002g0276 a0002c0006t0003g0092 a0002c0006t0003g0095 a0002c0006t0005g0123 a0002c0006t0005g0294 a0002c0092t0010g0192 a0002c0117t0003g0125 a0009c0096t0009g0295 a0013c0033t0002g0185 a0013c0033t0002g0189 a0036c0094t0004g0072	19	308	0.0617	-28	c.653 others(43): Show c.653+213_653+240delTTTCCTTCCTTCCTTCCTTCCTTCCTTC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109140271	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01261.hp2 HG01891.hp1 others(1): Show HG01069.hp2 HG01261.hp2 HG01891.hp1 HG02280.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0064 a0001c0074 a0003c0001 others(1): Show a0001c0064 a0001c0074 a0003c0001 a0011c0027	a0001c0064t0009 a0001c0074t0004 a0003c0001t0001 others(1): Show a0001c0064t0009 a0001c0074t0004 a0003c0001t0001 a0011c0027t0004	a0001c0064t0009g0184 a0001c0074t0004g0229 a0003c0001t0001g0064 others(1): Show a0001c0064t0009g0184 a0001c0074t0004g0229 a0003c0001t0001g0064 a0011c0027t0004g0150	4	308	0.0130	-28	c.653 others(43): Show c.653+266_653+293delTTCCTTCCTTCCTTCCTTCCTTCCTTCC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD8_chr11_134248568_134270855	134259357	CTCAGTCT others(21): Show CTCAGTCTCTGTGCCATTGGACCTTATTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01169.hp2 HG01261.hp1 others(20): Show HG01109.hp2 HG01169.hp2 HG01261.hp1 HG01496.hp1 HG01928.hp1 HG01943.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp1 HG02293.hp1 HG02572.hp2 HG02886.hp1 HG02922.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp2 NA18964.hp2 NA19005.hp1 NA19057.hp1 NA19060.hp1 NA19087.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0004c0007	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0003c0003t0001 a0004c0007t0001	a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0035 others(6): Show a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0074 a0001c0004t0001g0017 a0002c0002t0001g0015 a0002c0002t0001g0054 a0003c0003t0001g0017 a0004c0007t0001g0009	23	448	0.0513	-28	c.568 others(42): Show c.568-106_568-79delTCTCTGTGCCATTGGACCTTATTGTCAG	ACAD8	ENSG00000151498.12	transcript	ENST00000281182.9	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACADM_chr1_75719709_75768679	75737279	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0106 a0001c0001t0004g0106	1	364	0.0028	-28	c.468 others(45): Show c.468+2429_468+2456delATATATATATATATATATATATATATAT	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACAP2_chr3_195269745_195448020	195337898	GACCTGAG others(21): Show GACCTGAGCCCGGGGCCACTCCCACCTCA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0207 a0001c0003t0026g0207	1	324	0.0031	-28	c.529 others(43): Show c.529-950_529-923delTGAGGTGGGAGTGGCCCCGGGCTCAGGT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	6/22			chr3	TogoVar
ACER3_chr11_76855918_77031797	76950352	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp2 NA18960.hp1 others(2): Show HG00597.hp2 HG00621.hp2 NA18960.hp1 NA18963.hp1 NA19068.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0015 a0002c0004t0015	a0002c0004t0015g0230 a0002c0004t0015g0251 a0002c0004t0015g0307 others(2): Show a0002c0004t0015g0230 a0002c0004t0015g0251 a0002c0004t0015g0307 a0002c0004t0015g0311 a0002c0004t0015g0324	5	346	0.0145	-28	c.215 others(45): Show c.215-8595_215-8568delTATATATATATATATATATATATATATA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACO1_chr9_32379643_32459769	32454273	CACGCACT others(21): Show CACGCACTGTGCTCCACAGGATACTCTTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0068 a0001c0002t0068	a0001c0002t0068g0115 a0001c0002t0068g0115	1	382	0.0026	-28	c.41 others(39): Show c.4164_*4191delCGCACTGTGCTCCACAGGATACTCTTGA	ACO1	ENSG00000122729.19	transcript	ENST00000309951.8	protein_coding	21/21	4164	INFO_REALIGN_3_PRIME	chr9	TogoVar
ACOT11_chr1_54543228_54615329	54599175	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0308 a0004c0004t0004g0308	1	388	0.0026	-28	c.765 others(42): Show c.765-119_765-92delAAAAAATATATATATATATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599177	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0381 a0002c0002t0004g0381	1	388	0.0026	-28	c.765 others(42): Show c.765-117_765-90delAAAATATATATATATATATATATATATA	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT7_chr1_6259272_6398767	6339888	CGCTGGGA others(21): Show CGCTGGGACTACAGCGGGCCTTCCGAGTA	C C	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19085.hp2 NA18995.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0078 a0001c0001t0001g0066 a0001c0001t0001g0078	2	240	0.0083	-28	c.262 others(43): Show c.262-327_262-300delTACTCGGAAGGCCCGCTGTAGTCCCAGC	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	2/8			chr1	TogoVar
ACOT8_chr20_45836721_45862392	45836789	GATGACAA others(21): Show GATGACAAGATAGAGCAGGATGGCCAAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	422	0.0024	-28	c.50 others(39): Show c.5021_*5048delACTTGGCCATCCTGCTCTATCTTGTCAT	ACOT8	ENSG00000101473.17	transcript	ENST00000217455.9	protein_coding		4931		chr20	TogoVar
ACOX1_chr17_75936507_75984166	75956945	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03041.hp2 NA18941.hp2 HG01175.hp2 HG03041.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0029 a0001c0001t0002 a0001c0001t0029	a0001c0001t0002g0054 a0001c0001t0002g0074 a0001c0001t0029g0050 a0001c0001t0002g0054 a0001c0001t0002g0074 a0001c0001t0029g0050	3	344	0.0087	-28	c.538 others(43): Show c.538+486_538+513delTAGAGAGAGAGAGAGAGAGAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956947	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0033 a0001c0001t0029g0033	1	344	0.0029	-28	c.538 others(43): Show c.538+484_538+511delTATAGAGAGAGAGAGAGAGAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956951	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp2 NA18974.hp1 HG02886.hp1 HG02965.hp2 NA18974.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0001c0001 a0005c0012	a0001c0001t0019 a0001c0001t0073 a0005c0012t0037 a0001c0001t0019 a0001c0001t0073 a0005c0012t0037	a0001c0001t0019g0107 a0001c0001t0073g0032 a0005c0012t0037g0031 a0001c0001t0019g0107 a0001c0001t0073g0032 a0005c0012t0037g0031	3	344	0.0087	-28	c.538 others(43): Show c.538+480_538+507delTATATATAGAGAGAGAGAGAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956957	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0170 a0002c0002t0001g0170	1	344	0.0029	-28	c.538 others(43): Show c.538+474_538+501delTATATATATATATAGAGAGAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956959	CTCTCTCT others(21): Show CTCTCTCTCTCTCTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02735.hp1 HG01168.hp2 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0017 a0002c0002 a0002c0017	a0002c0002t0071 a0002c0017t0006 a0002c0002t0071 a0002c0017t0006	a0002c0002t0071g0298 a0002c0017t0006g0274 a0002c0002t0071g0298 a0002c0017t0006g0274	2	344	0.0058	-28	c.538 others(43): Show c.538+472_538+499delTATATATATATATATAGAGAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956961	CTCTCTCT others(21): Show CTCTCTCTCTCTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0134 a0002c0002t0001g0134	1	344	0.0029	-28	c.538 others(43): Show c.538+470_538+497delTATATATATATATATATAGAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956963	CTCTCTCT others(21): Show CTCTCTCTCTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02071.hp1 NA18612.hp2 others(1): Show HG00673.hp1 HG02071.hp1 NA18612.hp2 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0243 others(1): Show a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0243 a0002c0002t0001g0246	4	344	0.0116	-28	c.538 others(43): Show c.538+468_538+495delTATATATATATATATATATAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956965	CTCTCTCT others(21): Show CTCTCTCTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	344	0.0029	-28	c.538 others(43): Show c.538+466_538+493delTATATATATATATATATATATAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX2_chr3_58500136_58542190	58510685	TATATATA others(21): Show TATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp1 HG02572.hp2 others(4): Show HG01243.hp1 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02897.hp2 HG02976.hp1 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0001 a0001c0005t0002 a0001c0005t0003 a0001c0004t0001 a0001c0005t0002 a0001c0005t0003	a0001c0004t0001g0037 a0001c0004t0001g0253 a0001c0005t0002g0301 others(4): Show a0001c0004t0001g0037 a0001c0004t0001g0253 a0001c0005t0002g0301 a0001c0005t0002g0305 a0001c0005t0002g0306 a0001c0005t0002g0308 a0001c0005t0003g0291	7	364	0.0192	-28	c.185 others(47): Show c.1851-1688_1851-1661delGTGTATATATATATATATATATATAT AT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	13/14			chr3	TogoVar
ACOX2_chr3_58500136_58542190	58510687	TATATATA others(21): Show TATATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	364	0.0028	-28	c.185 others(47): Show c.1851-1690_1851-1663delGTGTGTATATATATATATATATATAT AT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	13/14			chr3	TogoVar
ACOX2_chr3_58500136_58542190	58510689	TATATATA others(21): Show TATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01256.hp2 HG03239.hp1 others(6): Show HG01255.hp2 HG01256.hp2 HG03239.hp1 HG03688.hp2 HG03834.hp1 NA18948.hp1 NA18951.hp1 NA18988.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0016 a0001c0001 a0001c0002 a0001c0016	a0001c0001t0001 a0001c0002t0001 a0001c0016t0001 a0001c0001t0001 a0001c0002t0001 a0001c0016t0001	a0001c0001t0001g0020 a0001c0001t0001g0058 a0001c0001t0001g0121 others(5): Show a0001c0001t0001g0020 a0001c0001t0001g0058 a0001c0001t0001g0121 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0172 a0001c0002t0001g0070 a0001c0016t0001g0136	9	364	0.0247	-28	c.185 others(47): Show c.1851-1692_1851-1665delGTGTGTGTATATATATATATATATAT AT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	13/14			chr3	TogoVar
ACOX2_chr3_58500136_58542190	58510695	TATATATA others(21): Show TATATATATATATATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01891.hp1 HG00621.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0006 a0001c0001t0002 a0001c0002t0006	a0001c0001t0002g0261 a0001c0002t0006g0090 a0001c0001t0002g0261 a0001c0002t0006g0090	2	364	0.0055	-28	c.185 others(47): Show c.1851-1698_1851-1671delGTGTGTGTGTGTGTATATATATATAT AT	ACOX2	ENSG00000168306.13	transcript	ENST00000302819.10	protein_coding	13/14			chr3	TogoVar
ACOX3_chr4_8361282_8445723	8393615	GCACACAC others(21): Show GCACACACACACACACACACACGCACACA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0237 a0001c0003t0001g0237	1	380	0.0026	-28	c.117 others(46): Show c.1179+977_1179+1004delTGTGTGCGTGTGTGTGTGTGTGTGTGT G	ACOX3	ENSG00000087008.16	transcript	ENST00000356406.10	protein_coding	10/17			chr4	TogoVar
ACP2_chr11_47234302_47253814	47242377	AAGTGATC others(21): Show AAGTGATCCAGTAGAGAAGCAGAGGCGTC	A A	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0069 a0006c0007t0001g0069	1	358	0.0028	-28	c.113 others(45): Show c.1138+318_1138+345delGACGCCTCTGCTTCTCTACTGGATCACT	ACP2	ENSG00000134575.13	transcript	ENST00000672073.1	protein_coding	10/10			chr11	TogoVar
ACP5_chr19_11569660_11582645	11576174	GCCATGTG others(21): Show GCCATGTGGACATCAGCTGGGATGGGGAC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0001	a0009c0017t0001g0077 a0009c0017t0001g0077	1	444	0.0023	-28	c.735 others(41): Show c.735+41_735+68delGTCCCCATCCCAGCTGATGTCCACATGG	ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	4/4			chr19	TogoVar
ACSBG1_chr15_78162468_78239565	78182379	TCCCAGGG others(21): Show TCCCAGGGGCTACTGGGGCAGAGCCATGG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	350	0.0029	-28	c.894 others(41): Show c.894+59_894+86delCCATGGCTCTGCCCCAGTAGCCCCTGGG	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	7/13			chr15	TogoVar
ACSBG1_chr15_78162468_78239565	78215724	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02015.hp2 HG02027.hp1 others(10): Show HG00597.hp2 HG02015.hp2 HG02027.hp1 HG02080.hp1 NA18945.hp1 NA18946.hp1 NA18954.hp2 NA18955.hp2 NA18967.hp1 NA18985.hp1 NA18985.hp2 NA19001.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0003 a0001c0001 a0001c0013 a0002c0003	a0001c0001t0001 a0001c0001t0016 a0001c0013t0001 others(2): Show a0001c0001t0001 a0001c0001t0016 a0001c0013t0001 a0002c0003t0001 a0002c0003t0008	a0001c0001t0001g0171 a0001c0001t0016g0247 a0001c0013t0001g0164 others(10): Show a0001c0001t0001g0171 a0001c0001t0016g0247 a0001c0013t0001g0164 a0002c0003t0001g0169 a0002c0003t0001g0258 a0002c0003t0001g0261 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0266 a0002c0003t0001g0318 a0002c0003t0008g0267	13	350	0.0371	-28	c.132 others(45): Show c.132-7650_132-7623delTTCTTTCTTTCTTTCTTTCTTTCTTTCT	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	1/13			chr15	TogoVar
ACSBG1_chr15_78162468_78239565	78215768	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAGAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0230 a0002c0005t0006g0230	1	350	0.0029	-28	c.132 others(45): Show c.132-7694_132-7667delCTTTCTTTCTCTTTCTTTCTTTCTTTCT	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding	1/13			chr15	TogoVar
ACSL4_chrX_109636335_109738257	109727657	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp2 others(60): Show HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01981.hp1 HG02027.hp1 HG02074.hp1 HG02109.hp1 HG02258.hp1 HG02293.hp2 HG02602.hp1 HG02683.hp2 HG02717.hp1 HG02738.hp1 HG02965.hp1 HG03017.hp1 HG03209.hp1 HG03239.hp2 HG03490.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG06807.hp2 NA18906.hp2 NA18949.hp2 NA18964.hp2 NA18967.hp1 NA18998.hp1 NA19043.hp1 NA19058.hp1 NA19086.hp1 NA19088.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0003t0001 a0003c0004t0001 a0001c0001t0001 a0001c0003t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0172 a0001c0001t0001g0186 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0212 a0001c0003t0001g0211 a0003c0004t0001g0057	63	222	0.2838	-28	c.-66 others(45): Show c.-66+5454_-66+5481delCACACACACACACACACACACACACACA	ACSL4	ENSG00000068366.21	transcript	ENST00000672401.1	protein_coding	1/15			chrX	TogoVar
ACSM1_chr16_20618235_20702680	20635580	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02451.hp2 HG03704.hp2 others(3): Show HG01109.hp1 HG02451.hp2 HG03704.hp2 HG03927.hp1 NA19012.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0004	a0001c0001t0002 a0001c0002t0001 a0001c0008t0003 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0008t0003 a0002c0004t0001	a0001c0001t0002g0296 a0001c0002t0001g0058 a0001c0002t0001g0072 others(3): Show a0001c0001t0002g0296 a0001c0002t0001g0058 a0001c0002t0001g0072 a0001c0008t0003g0097 a0001c0008t0003g0260 a0002c0004t0001g0288	6	318	0.0189	-28	c.129 others(47): Show c.1299+1131_1299+1158delGAAAGAAAGAAAGAAAGAAAGAAAGA AA	ACSM1	ENSG00000166743.10	transcript	ENST00000520010.6	protein_coding	10/13			chr16	TogoVar
ACSM5_chr16_20404534_20446336	20408194	TCCAGAGT others(21): Show TCCAGAGTAGCTGGGACTACAGGCGCCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02145.hp1 HG02486.hp2 HG02135.hp1 HG02145.hp1 HG02486.hp2	a0016 a0031 a0016 a0031	a0016c0017 a0031c0025 a0016c0017 a0031c0025	a0016c0017t0010 a0031c0025t0006 a0016c0017t0010 a0031c0025t0006	a0016c0017t0010g0050 a0016c0017t0010g0051 a0031c0025t0006g0340 a0016c0017t0010g0050 a0016c0017t0010g0051 a0031c0025t0006g0340	3	434	0.0069	-28	c.-14 others(39): Show c.-1486_-1459delCCAGAGTAGCTGGGACTACAGGCGCCCA	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding		1339		chr16	TogoVar
ACSS3_chr12_81073079_81266210	81213957	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01069.hp1 others(22): Show HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG01993.hp2 HG02129.hp2 HG02148.hp1 HG02280.hp2 HG02698.hp2 HG03239.hp1 HG04115.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0004 a0001c0001 a0001c0006 a0002c0004	a0001c0001t0003 a0001c0001t0029 a0001c0006t0003 others(2): Show a0001c0001t0003 a0001c0001t0029 a0001c0006t0003 a0001c0006t0011 a0002c0004t0003	a0001c0001t0003g0094 a0001c0001t0003g0236 a0001c0001t0003g0237 others(22): Show a0001c0001t0003g0094 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0240 a0001c0001t0003g0243 a0001c0001t0003g0250 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0288 a0001c0001t0029g0264 a0001c0006t0003g0246 a0001c0006t0011g0234 a0001c0006t0011g0254 a0002c0004t0003g0229 a0002c0004t0003g0230	25	290	0.0862	-28	c.135 others(47): Show c.1355-2921_1355-2894delTTTCTTTCTTTCTTTCTTTCTTTCTT TC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACTR1B_chr2_97650939_97669044	97665715	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18972.hp1 NA18995.hp1 others(1): Show NA18957.hp2 NA18972.hp1 NA18995.hp1 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	4	398	0.0101	-28	c.-18 others(39): Show c.-1853_-1826delTATATAGAGAGAGAGAGAGAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1672		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665717	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA19002.hp2 NA19054.hp1 others(1): Show NA18977.hp2 NA19002.hp2 NA19054.hp1 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	4	398	0.0101	-28	c.-18 others(39): Show c.-1855_-1828delTATATATAGAGAGAGAGAGAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1674		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665719	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG01069.hp2 others(11): Show HG00733.hp1 HG00733.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01192.hp2 HG01943.hp1 HG03654.hp2 NA18612.hp2 NA18950.hp2 NA18952.hp1 NA18979.hp2 NA19011.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0064 a0001c0002t0002g0066 a0001c0002t0002g0002 a0001c0002t0002g0064 a0001c0002t0002g0066	14	398	0.0352	-28	c.-18 others(39): Show c.-1857_-1830delTATATATATAGAGAGAGAGAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1676		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665721	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG00642.hp1 others(25): Show HG00323.hp2 HG00597.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01192.hp1 HG01255.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01993.hp1 HG02129.hp1 HG02293.hp2 HG02735.hp2 HG03453.hp1 NA18947.hp2 NA18960.hp2 NA18966.hp2 NA18998.hp2 NA19010.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0004 a0004c0009 a0001c0002 a0003c0004 a0004c0009	a0001c0002t0002 a0001c0002t0005 a0003c0004t0002 others(1): Show a0001c0002t0002 a0001c0002t0005 a0003c0004t0002 a0004c0009t0002	a0001c0002t0002g0002 a0001c0002t0002g0016 a0001c0002t0005g0006 others(2): Show a0001c0002t0002g0002 a0001c0002t0002g0016 a0001c0002t0005g0006 a0003c0004t0002g0009 a0004c0009t0002g0065	28	398	0.0704	-28	c.-18 others(39): Show c.-1859_-1832delTATATATATATAGAGAGAGAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1678		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665723	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(26): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG01074.hp2 HG01081.hp2 HG01346.hp2 HG01516.hp2 HG01975.hp2 HG02004.hp2 HG02698.hp1 HG03942.hp1 HG04228.hp1 NA18747.hp2 NA18939.hp2 NA18943.hp1 NA18946.hp1 NA18963.hp2 NA18981.hp1 NA18991.hp1 NA18998.hp1 NA19011.hp2 NA19065.hp1 NA19074.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0002 a0003c0004t0002 a0001c0002t0002 a0003c0004t0002	a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0016 others(5): Show a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0016 a0001c0002t0002g0023 a0001c0002t0002g0060 a0001c0002t0002g0062 a0001c0002t0002g0063 a0003c0004t0002g0009	29	398	0.0729	-28	c.-18 others(39): Show c.-1861_-1834delTATATATATATATAGAGAGAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1680		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665725	CTCTCTCT others(21): Show CTCTCTCTCTCTCTATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01074.hp1 HG01099.hp1 others(9): Show HG00741.hp2 HG01074.hp1 HG01099.hp1 HG01255.hp1 HG01496.hp1 HG02300.hp1 HG02486.hp2 NA18747.hp1 NA18962.hp1 NA18979.hp1 NA19000.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0023 a0001c0002t0002g0002 a0001c0002t0002g0023	12	398	0.0302	-28	c.-18 others(39): Show c.-1863_-1836delTATATATATATATATAGAGAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1682		chr2	TogoVar
ACTR1B_chr2_97650939_97669044	97665727	CTCTCTCT others(21): Show CTCTCTCTCTCTATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 NA18957.hp1 NA18973.hp2 others(3): Show HG01106.hp1 NA18957.hp1 NA18973.hp2 NA19064.hp2 NA19075.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0061 a0001c0002t0002g0002 a0001c0002t0002g0061	6	398	0.0151	-28	c.-18 others(39): Show c.-1865_-1838delTATATATATATATATATAGAGAGAGAGA	ACTR1B	ENSG00000115073.8	transcript	ENST00000289228.7	protein_coding		1684		chr2	TogoVar
ACVR2B_chr3_38448890_38498142	38492731	TACACACA others(21): Show TACACACACACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp1 HG00639.hp2 HG00741.hp1 others(23): Show HG00621.hp1 HG00639.hp2 HG00741.hp1 HG01123.hp2 HG01256.hp1 HG01258.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02080.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02451.hp1 HG02630.hp2 HG02970.hp2 HG03041.hp2 HG03209.hp2 NA18960.hp1 NA18986.hp1 NA18995.hp2 NA19066.hp1 NA19083.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0009 a0001c0001t0034 others(10): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0034 a0001c0001t0050 a0001c0001t0059 a0001c0001t0069 a0001c0001t0124 a0001c0001t0128 a0001c0001t0162 a0001c0001t0163 a0001c0001t0187 a0001c0001t0189 a0001c0002t0088	a0001c0001t0006g0002 a0001c0001t0006g0033 a0001c0001t0009g0007 others(14): Show a0001c0001t0006g0002 a0001c0001t0006g0033 a0001c0001t0009g0007 a0001c0001t0009g0036 a0001c0001t0034g0002 a0001c0001t0034g0128 a0001c0001t0050g0036 a0001c0001t0050g0085 a0001c0001t0059g0002 a0001c0001t0069g0131 a0001c0001t0124g0007 a0001c0001t0128g0140 a0001c0001t0162g0035 a0001c0001t0163g0007 a0001c0001t0187g0129 a0001c0001t0189g0002 a0001c0002t0088g0026	26	410	0.0634	-28	c.94 others(39): Show c.9445_*9472delCACACACACACACACACACACACACACA	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11	9445	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACVR2B_chr3_38448890_38498142	38492777	CACACACA others(21): Show CACACACACACACACACACACACACACAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp2 HG02258.hp2 HG03209.hp1 others(4): Show HG00558.hp2 HG02258.hp2 HG03209.hp1 HG03491.hp2 HG03492.hp1 NA18962.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0184 a0001c0003t0037 a0001c0003t0038 others(2): Show a0001c0001t0184 a0001c0003t0037 a0001c0003t0038 a0001c0003t0083 a0001c0004t0199	a0001c0001t0184g0002 a0001c0003t0037g0037 a0001c0003t0038g0003 others(2): Show a0001c0001t0184g0002 a0001c0003t0037g0037 a0001c0003t0038g0003 a0001c0003t0083g0155 a0001c0004t0199g0064	7	410	0.0171	-28	c.94 others(39): Show c.9450_*9477delACACACACACACACACACACACATACAC	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	11/11	9450	INFO_REALIGN_3_PRIME	chr3	TogoVar
ACYP2_chr2_53966113_54310300	54013255	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0050 a0001c0002t0002g0050	1	272	0.0037	-28	c.63- others(45): Show c.63-37669_63-37642delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54276636	CACACACA others(21): Show CACACACACACACACACACACACACACCA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	272	0.0037	-28	c.405 others(47): Show c.405-28051_405-28024delACACACACACACACACACACACACAC CA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6			chr2	TogoVar
ADA2_chr22_17173790_17224435	17191869	CCCAGCCA others(21): Show CCCAGCCACCCCTGCCCAGCCACCCCTGG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02258.hp1 others(10): Show HG01884.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp2 HG02572.hp2 HG02647.hp2 HG02717.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03453.hp1 HG03486.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0006 others(1): Show a0001c0003 a0002c0002 a0002c0006 a0002c0009	a0001c0003t0010 a0002c0002t0001 a0002c0002t0003 others(3): Show a0001c0003t0010 a0002c0002t0001 a0002c0002t0003 a0002c0006t0003 a0002c0006t0010 a0002c0009t0014	a0001c0003t0010g0088 a0002c0002t0001g0031 a0002c0002t0001g0252 others(10): Show a0001c0003t0010g0088 a0002c0002t0001g0031 a0002c0002t0001g0252 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0044 a0002c0002t0003g0301 a0002c0006t0003g0064 a0002c0006t0010g0089 a0002c0006t0010g0305 a0002c0009t0014g0022	13	408	0.0319	-28	c.754 others(41): Show c.754-87_754-60delCCAGGGGTGGCTGGGCAGGGGTGGCTGG	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	4/9			chr22	TogoVar
ADAM10_chr15_58583809_58754707	58593149	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0181 a0001c0001t0107g0181	1	342	0.0029	-28	c.43 others(39): Show c.4370_*4397delAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	16/16	4370		chr15	TogoVar
ADAM12_chr10_126007391_126393477	126113685	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG02717.hp1 others(4): Show HG01109.hp2 HG02145.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0021 others(1): Show a0001c0002 a0001c0004 a0001c0021 a0002c0001	a0001c0002t0019 a0001c0004t0023 a0001c0021t0021 others(2): Show a0001c0002t0019 a0001c0004t0023 a0001c0021t0021 a0002c0001t0001 a0002c0001t0017	a0001c0002t0019g0188 a0001c0004t0023g0014 a0001c0004t0023g0173 others(4): Show a0001c0002t0019g0188 a0001c0004t0023g0014 a0001c0004t0023g0173 a0001c0021t0021g0076 a0001c0021t0021g0077 a0002c0001t0001g0007 a0002c0001t0017g0156	7	252	0.0278	-28	c.604 others(45): Show c.604-3873_604-3846delATATATATATATATATATATATATATTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/22			chr10	TogoVar

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