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
ARHGEF10_chr8_1818926_1963641	1841928	GGGAACTG others(29): Show GGGAACTGGGGCCGCGACCGGAACTGGGGCCGCGACC	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01515.hp1 HG01517.hp2 others(9): Show HG00558.hp2 HG01515.hp1 HG01517.hp2 HG02280.hp2 HG02486.hp2 HG02630.hp1 HG03041.hp2 HG03209.hp2 HG03239.hp1 NA18522.hp2 NA18954.hp1 NA19091.hp1	a0001 a0004 a0011 others(2): Show a0001 a0004 a0011 a0017 a0025	a0001c0002 a0001c0004 a0001c0007 others(7): Show a0001c0002 a0001c0004 a0001c0007 a0001c0009 a0001c0023 a0004c0044 a0004c0139 a0011c0138 a0017c0126 a0025c0055	a0001c0002t0003 a0001c0004t0013 a0001c0007t0001 others(7): Show a0001c0002t0003 a0001c0004t0013 a0001c0007t0001 a0001c0009t0058 a0001c0023t0007 a0004c0044t0004 a0004c0139t0009 a0011c0138t0011 a0017c0126t0007 a0025c0055t0045	a0001c0002t0003g0348 a0001c0004t0013g0018 a0001c0007t0001g0218 others(9): Show a0001c0002t0003g0348 a0001c0004t0013g0018 a0001c0007t0001g0218 a0001c0007t0001g0268 a0001c0007t0001g0323 a0001c0009t0058g0200 a0001c0023t0007g0090 a0004c0044t0004g0349 a0004c0139t0009g0196 a0011c0138t0011g0353 a0017c0126t0007g0113 a0025c0055t0045g0108	12	363	0.0331	-36	c.-47 others(53): Show c.-47-1409_-47-1374delACCGGAACTGGGGCCGCGACCGGAACTG GGGCCGCG		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1841946	CGGAACTG others(29): Show CGGAACTGGGGCCGCGACCGGAACTGGGGCCGCGGCG	C C	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0060 a0001c0015t0060	a0001c0015t0060g0109 a0001c0015t0060g0109	1	363	0.0028	-36	c.-47 others(53): Show c.-47-1391_-47-1356delACCGGAACTGGGGCCGCGGCGGGAACTG GGGCCGCG		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1841964	CGGAACTG others(29): Show CGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCG	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 NA18747.hp2 HG01516.hp2 HG01517.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0004 a0001c0014t0002 a0001c0001t0004 a0001c0014t0002	a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0014t0002g0242 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0014t0002g0242	3	363	0.0083	-36	c.-47 others(53): Show c.-47-1301_-47-1266delGCGGGAACTGGGGCCGCGGCGGGAACTG GGGCCGCG		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF12_chr11_120331413_120494937	120351423	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18947.hp2 NA18994.hp1 HG03579.hp2 NA18947.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0105 a0001c0001t0002g0121 a0001c0001t0006g0103 a0001c0001t0002g0105 a0001c0001t0002g0121 a0001c0001t0006g0103	3	308	0.0097	-36	c.32+ others(53): Show c.32+14150_32+14185delATATATATATATATATATATATATATAT ATATTTTT		ARHGEF12	ENSG00000196914.9	transcript	ENST00000397843.7	protein_coding	1/40					INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF12_chr11_120331413_120494937	120351425	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	308	0.0033	-36	c.32+ others(53): Show c.32+14152_32+14187delATATATATATATATATATATATATATAT ATTTTTTT		ARHGEF12	ENSG00000196914.9	transcript	ENST00000397843.7	protein_coding	1/40					INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF12_chr11_120331413_120494937	120351427	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0090 a0001c0001t0031g0090	1	308	0.0033	-36	c.32+ others(53): Show c.32+14154_32+14189delATATATATATATATATATATATATATAT TTTTTTTT		ARHGEF12	ENSG00000196914.9	transcript	ENST00000397843.7	protein_coding	1/40					INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF12_chr11_120331413_120494937	120351429	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0032 a0005c0016t0032	a0005c0016t0032g0100 a0005c0016t0032g0100	1	308	0.0033	-36	c.32+ others(53): Show c.32+14156_32+14191delATATATATATATATATATATATATATTT TTTTTTTT		ARHGEF12	ENSG00000196914.9	transcript	ENST00000397843.7	protein_coding	1/40					INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGEF15_chr17_8305241_8327511	8326020	CTATAGGG others(29): Show CTATAGGGGGTGGGTTATAGTGTCCAGTGTGGCATTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	428	0.0023	-36	c.50 others(47): Show c.5028_*5063delTATAGGGGGTGGGTTATAGTGTCCAGTGTGGCAT TA		ARHGEF15	ENSG00000198844.12	transcript	ENST00000361926.8	protein_coding					3510		chr17	TogoVar
ARHGEF18_chr19_7343937_7477478	7362011	AAGAAGGA others(29): Show AAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG04184.hp2 HG02602.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0060 a0001c0002t0003g0121 a0001c0002t0003g0060 a0001c0002t0003g0121	2	298	0.0067	-36	c.-11 others(53): Show c.-110-659_-110-624delAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAG		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF18_chr19_7343937_7477478	7362137	GAGAAGGA others(29): Show GAGAAGGAGAAGGAGAAGGAGGAGAAGAAGGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01257.hp2 HG01258.hp2 others(4): Show HG00735.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG03942.hp1 NA18989.hp2 NA19066.hp1	a0001 a0004 a0022 a0001 a0004 a0022	a0001c0002 a0004c0015 a0022c0050 a0001c0002 a0004c0015 a0022c0050	a0001c0002t0002 a0001c0002t0003 a0004c0015t0003 others(1): Show a0001c0002t0002 a0001c0002t0003 a0004c0015t0003 a0022c0050t0003	a0001c0002t0002g0038 a0001c0002t0003g0040 a0001c0002t0003g0100 others(4): Show a0001c0002t0002g0038 a0001c0002t0003g0040 a0001c0002t0003g0100 a0001c0002t0003g0131 a0004c0015t0003g0123 a0004c0015t0003g0124 a0022c0050t0003g0072	7	298	0.0235	-36	c.-11 others(53): Show c.-110-641_-110-606delAAGGAGAAGGAGAAGGAGGAGAAGAAGG AGAAGAAG		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF1_chr19_41878184_41912452	41894732	GTCTGAGG others(29): Show GTCTGAGGGAGGAGGGGCTGGGACCTGGACGCCTGGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(74): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00738.hp1 HG01109.hp1 HG01243.hp1 HG01261.hp2 HG01884.hp1 HG01981.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18951.hp2 NA18954.hp2 NA18961.hp2 NA18965.hp2 NA18970.hp2 NA18990.hp1 NA18995.hp2 NA18998.hp2 NA19001.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19065.hp2 NA19079.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0013 a0002c0004 a0001c0002 a0001c0013 a0002c0004	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0013t0001 a0002c0004t0001	a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0011 others(61): Show a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0017 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0130 a0001c0002t0002g0039 a0001c0002t0004g0057 a0001c0002t0005g0001 a0001c0013t0001g0001 a0002c0004t0001g0001 a0002c0004t0001g0047 a0002c0004t0001g0048	77	234	0.3291	-36	c.877 others(50): Show c.877+88_877+123delCTGGGACCTGGACGCCTGGTTCTGAGGGAGG AGGGG		ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	11/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF28_chr5_73621196_73946990	73671712	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03486.hp1 HG03209.hp2 HG03486.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0146 a0001c0028t0001g0181 a0001c0028t0001g0146 a0001c0028t0001g0181	2	188	0.0106	-36	c.-11 others(55): Show c.-11-13127_-11-13092delATATATATATATATATATATATATAT TTTTTTTTTT		ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF28_chr5_73621196_73946990	73671718	ATATATAT others(29): Show ATATATATATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA20300.hp2 HG02451.hp1 NA20300.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0004 a0002c0003 a0004c0004	a0002c0003t0001 a0004c0004t0001 a0002c0003t0001 a0004c0004t0001	a0002c0003t0001g0166 a0004c0004t0001g0167 a0002c0003t0001g0166 a0004c0004t0001g0167	2	188	0.0106	-36	c.-11 others(55): Show c.-11-13121_-11-13086delATATATATATATATATATATTTTTTT TTTTTTTTTT		ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF37_chr5_149576498_149639968	149598303	TCTTCTTC others(29): Show TCTTCTTCTTCTTCTTCTTCTTCTTTCTTCCTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0025 a0008c0009t0025	a0008c0009t0025g0327 a0008c0009t0025g0327	1	394	0.0025	-36	c.186 others(51): Show c.186+349_186+384delCTTCTTCTTCTTCTTCTTCTTCTTTCTTCC TCTTCC		ARHGEF37	ENSG00000183111.12	transcript	ENST00000333677.7	protein_coding	2/12						chr5	TogoVar
ARHGEF7_chr13_111110310_111310732	111221237	ATATATGT others(29): Show ATATATGTCTATATATATCTATATAGATATATATGTC	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0226 a0001c0001t0004g0226	1	274	0.0037	-36	c.670 others(53): Show c.670+3363_670+3398delGTCTATATATATCTATATAGATATATAT GTCTATAT		ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr13	TogoVar
ARID1B_chr6_156772378_157215779	157039616	ACCTTCCT others(29): Show ACCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp1 HG03041.hp2 others(2): Show HG02109.hp2 HG02809.hp1 HG03041.hp2 HG03139.hp2 NA19240.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0018	a0001c0001 a0002c0003 a0007c0032 others(1): Show a0001c0001 a0002c0003 a0007c0032 a0018c0026	a0001c0001t0001 a0002c0003t0018 a0007c0032t0015 others(1): Show a0001c0001t0001 a0002c0003t0018 a0007c0032t0015 a0018c0026t0016	a0001c0001t0001g0056 a0001c0001t0001g0069 a0002c0003t0018g0028 others(2): Show a0001c0001t0001g0056 a0001c0001t0001g0069 a0002c0003t0018g0028 a0007c0032t0015g0004 a0018c0026t0016g0061	5	150	0.0333	-36	c.224 others(57): Show c.2248-45016_2248-44981delTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTC		ARID1B	ENSG00000049618.25	transcript	ENST00000636930.2	protein_coding	4/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
ARID4B_chr1_235161902_235333179	235173757	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	272	0.0037	-36	c.366 others(54): Show c.3665-1029_3665-994delATATATATATATATATATATATTTTTT TTTTTTTTT		ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	22/23						chr1	TogoVar
ARK2C_chr18_46329018_46468140	46397539	GGGTCATG others(29): Show GGGTCATGCTGGGGTGTGAGGGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01346.hp1 HG02015.hp1 others(37): Show HG01081.hp1 HG01346.hp1 HG02015.hp1 HG02132.hp2 HG02145.hp1 HG02451.hp1 HG02559.hp1 HG02615.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03942.hp2 NA18522.hp2 NA18906.hp1 NA18966.hp2 NA18980.hp1 NA18980.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp2 NA19066.hp2 NA19077.hp2 NA19082.hp1 NA19084.hp2 NA19088.hp1 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0021 a0001c0001t0025 a0001c0001t0027 a0001c0001t0043 a0001c0001t0045 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0004t0012	a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0033 others(37): Show a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0100 a0001c0001t0001g0110 a0001c0001t0001g0129 a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0215 a0001c0001t0001g0243 a0001c0001t0001g0255 a0001c0001t0002g0068 a0001c0001t0002g0246 a0001c0001t0003g0180 a0001c0001t0003g0187 a0001c0001t0005g0217 a0001c0001t0006g0237 a0001c0001t0007g0031 a0001c0001t0007g0154 a0001c0001t0007g0178 a0001c0001t0007g0232 a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0008g0073 a0001c0001t0008g0074 a0001c0001t0008g0097 a0001c0001t0011g0227 a0001c0001t0012g0155 a0001c0001t0018g0076 a0001c0001t0018g0231 a0001c0001t0021g0081 a0001c0001t0025g0091 a0001c0001t0027g0014 a0001c0001t0043g0008 a0001c0001t0045g0075 a0001c0001t0058g0048 a0001c0001t0060g0244 a0001c0001t0061g0128 a0001c0004t0012g0174	40	260	0.1539	-36	c.62- others(53): Show c.62-35604_62-35569delGGGTGTGAGGGTGTGTGTGTGTGTGTGG TCATGCTG		ARK2C	ENSG00000141622.14	transcript	ENST00000269439.12	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
ARL8B_chr3_5117292_5185911	5174682	TTATATAT others(29): Show TTATATATTATATGTAATATATATGTAATATGTATTA	T T	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19064.hp1 NA19056.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0060 a0001c0001t0002g0041 a0001c0001t0002g0060	2	304	0.0066	-36	c.511 others(51): Show c.511+274_511+309delATTATATGTAATATATATGTAATATGTATT ATATAT		ARL8B	ENSG00000134108.14	transcript	ENST00000256496.8	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
ARRDC1_chr9_137600686_137620360	137601227	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0024 a0003c0003t0002g0024	1	338	0.0030	-36	c.-44 others(47): Show c.-4490_-4455delTATATATATATATATATATATATATATATATATT TT		ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding					4458		chr9	TogoVar
ARRDC1_chr9_137600686_137620360	137601237	ATATATAT others(29): Show ATATATATATATATATATATATATTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	338	0.0030	-36	c.-44 others(47): Show c.-4480_-4445delTATATATATATATATATATATATTTTTTTTTTTT TT		ARRDC1	ENSG00000197070.14	transcript	ENST00000371421.9	protein_coding					4448		chr9	TogoVar
ARSG_chr17_68286495_68425814	68331197	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00733.hp2 HG01070.hp2 others(16): Show HG00673.hp2 HG00733.hp2 HG01070.hp2 HG01109.hp2 HG01168.hp1 HG01515.hp1 HG02055.hp2 HG02451.hp1 HG02895.hp1 HG02896.hp2 HG03098.hp2 HG03453.hp2 HG03654.hp2 NA18948.hp1 NA18971.hp2 NA18979.hp1 NA18980.hp2 NA19060.hp2 NA19240.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0009	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0013 a0002c0002 a0003c0004 a0004c0006 a0006c0008 a0009c0016	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0005t0001 a0001c0009t0001 a0001c0013t0001 a0002c0002t0001 a0002c0002t0002 a0003c0004t0002 a0004c0006t0001 a0004c0006t0002 a0006c0008t0002 a0009c0016t0002	a0001c0001t0001g0008 a0001c0001t0001g0158 a0001c0001t0002g0072 others(16): Show a0001c0001t0001g0008 a0001c0001t0001g0158 a0001c0001t0002g0072 a0001c0001t0002g0225 a0001c0003t0003g0253 a0001c0003t0003g0254 a0001c0005t0001g0043 a0001c0009t0001g0049 a0001c0013t0001g0046 a0002c0002t0001g0060 a0002c0002t0001g0296 a0002c0002t0001g0304 a0002c0002t0002g0111 a0003c0004t0002g0079 a0004c0006t0001g0182 a0004c0006t0001g0203 a0004c0006t0002g0268 a0006c0008t0002g0078 a0009c0016t0002g0136	19	304	0.0625	-36	c.219 others(55): Show c.219-12375_219-12340delCTTTGTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT		ARSG	ENSG00000141337.13	transcript	ENST00000621439.5	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSJ_chr4_113895284_113984647	113924056	AATATATA others(29): Show AATATATATAAATATATATAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02970.hp1 HG03516.hp1 others(3): Show HG02886.hp1 HG02970.hp1 HG03516.hp1 NA18522.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0037 a0002c0002t0002 others(3): Show a0001c0001t0002 a0001c0001t0037 a0002c0002t0002 a0002c0002t0004 a0002c0002t0018 a0002c0002t0033	a0001c0001t0002g0119 a0001c0001t0037g0178 a0002c0002t0002g0138 others(3): Show a0001c0001t0002g0119 a0001c0001t0037g0178 a0002c0002t0002g0138 a0002c0002t0004g0311 a0002c0002t0018g0049 a0002c0002t0033g0215	6	350	0.0171	-36	c.399 others(55): Show c.399-20417_399-20382delATATATATATATATATTTATATATAT TTATATATAT		ARSJ	ENSG00000180801.14	transcript	ENST00000315366.8	protein_coding	1/1						chr4	TogoVar
AS3MT_chr10_102864470_102906899	102869497	TCCTGAGT others(29): Show TCCTGAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGC	T T	frameshift_variant others(2): Show frameshift_variant start_lost splice_region_variant	HIGH	HG00099.hp1 HG00544.hp1 HG00597.hp1 others(170): Show HG00099.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0002c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(28): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0002t0004 a0001c0002t0018 a0001c0002t0019 a0001c0002t0023 a0001c0002t0024 a0001c0003t0004 a0001c0004t0007 a0001c0006t0006 a0001c0007t0004 a0001c0008t0003 a0001c0011t0002 a0002c0012t0006	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 others(163): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0060 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0106 a0001c0001t0003g0177 a0001c0001t0004g0027 a0001c0001t0006g0015 a0001c0001t0006g0102 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0001t0006g0175 a0001c0001t0007g0002 a0001c0001t0007g0107 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0007g0117 a0001c0001t0007g0118 a0001c0001t0007g0120 a0001c0001t0007g0124 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0007g0138 a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0008g0045 a0001c0001t0008g0048 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0008g0051 a0001c0001t0010g0070 a0001c0001t0010g0121 a0001c0001t0010g0146 a0001c0001t0010g0256 a0001c0001t0010g0261 a0001c0001t0010g0267 a0001c0001t0010g0269 a0001c0001t0012g0002 a0001c0001t0012g0003 a0001c0001t0012g0008 a0001c0001t0012g0123 a0001c0001t0012g0134 a0001c0001t0012g0151 a0001c0001t0014g0001 a0001c0001t0014g0061 a0001c0001t0014g0079 a0001c0001t0015g0059 a0001c0001t0015g0142 a0001c0001t0015g0152 a0001c0001t0016g0044 a0001c0001t0016g0052 a0001c0001t0020g0168 a0001c0001t0021g0171 a0001c0001t0022g0016 a0001c0001t0025g0046 a0001c0001t0026g0047 a0001c0001t0030g0005 a0001c0001t0031g0268 a0001c0001t0032g0131 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0041 a0001c0002t0004g0053 a0001c0002t0004g0054 a0001c0002t0004g0055 a0001c0002t0004g0057 a0001c0002t0004g0058 a0001c0002t0018g0030 a0001c0002t0019g0031 a0001c0002t0023g0026 a0001c0002t0024g0056 a0001c0003t0004g0036 a0001c0004t0007g0162 a0001c0006t0006g0176 a0001c0007t0004g0020 a0001c0008t0003g0073 a0001c0011t0002g0132 a0002c0012t0006g0167	173	362	0.4779	-36	c.-19 others(44): Show c.-19_1+16delAGTCGCAGGCCGAGGAGACAGTGAGTGCGCGCCCTG	p.Met others(3): Show p.Met1fs	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	1/11	105/2450	1/1128	1/375		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102901017	GTAGAGGC others(29): Show GTAGAGGCTGCAGTGAGTAAGCATCACGCCACTGTAC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0056 a0001c0002t0024g0056	1	362	0.0028	-36	c.31 others(45): Show c.319_*354delAGAGGCTGCAGTGAGTAAGCATCACGCCACTGTACT		AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	11/11				319	INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAP1_chr8_130047104_130448674	130070814	GGAGAGAG others(29): Show GGAGAGAGGGAGAGAGGGAGAGAGAGGGAGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0116 a0002c0002t0015g0116	1	308	0.0033	-36	c.270 others(55): Show c.2701+5498_2701+5533delTCCCTCTCTCCCTCTCTCTCCCTCTC TCCCTCTCTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASAP1_chr8_130047104_130448674	130070878	AGAGAGGG others(29): Show AGAGAGGGAGAGAGGGAGAGAGGGAGGGAGAGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01175.hp2 HG01891.hp2 others(8): Show HG00099.hp1 HG01175.hp2 HG01891.hp2 HG01943.hp2 HG02698.hp1 HG02922.hp1 HG03017.hp2 NA19005.hp2 NA19007.hp1 NA19030.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0019 a0003c0010t0019	a0001c0001t0002g0027 a0001c0001t0002g0169 a0001c0001t0008g0021 others(8): Show a0001c0001t0002g0027 a0001c0001t0002g0169 a0001c0001t0008g0021 a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0009g0007 a0001c0001t0009g0008 a0001c0001t0018g0290 a0001c0001t0018g0294 a0001c0001t0019g0286 a0003c0010t0019g0287	11	308	0.0357	-36	c.270 others(55): Show c.2701+5434_2701+5469delCCTCTCTCTCCCTCCCTCTCTCCCTC TCTCCCTCTC		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29						chr8	TogoVar
ASB15_chr7_123596821_123644481	123620522	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0254 a0003c0005t0002g0254	1	380	0.0026	-36	c.451 others(53): Show c.451+2787_451+2822delATATATATATATATATATATATATATAT ATATTTTT		ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB18_chr2_236188459_236269406	236237362	GGGGGCCG others(29): Show GGGGGCCGGGGCCGGGGCGCGGGGCGGGGGCCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp2 HG02145.hp2 others(14): Show HG01099.hp1 HG01884.hp2 HG02145.hp2 HG02258.hp1 HG02559.hp1 HG02572.hp2 HG02723.hp1 HG02818.hp2 HG02896.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp2 HG03471.hp2 HG03579.hp1 NA18522.hp1 NA19043.hp2 NA20300.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0003 a0002c0002 a0002c0005 others(3): Show a0001c0003 a0002c0002 a0002c0005 a0002c0009 a0002c0011 a0013c0018	a0001c0003t0006 a0002c0002t0006 a0002c0005t0001 others(6): Show a0001c0003t0006 a0002c0002t0006 a0002c0005t0001 a0002c0005t0002 a0002c0005t0006 a0002c0009t0014 a0002c0009t0016 a0002c0011t0002 a0013c0018t0002	a0001c0003t0006g0075 a0002c0002t0006g0020 a0002c0002t0006g0021 others(14): Show a0001c0003t0006g0075 a0002c0002t0006g0020 a0002c0002t0006g0021 a0002c0002t0006g0067 a0002c0005t0001g0022 a0002c0005t0001g0029 a0002c0005t0002g0084 a0002c0005t0002g0150 a0002c0005t0002g0199 a0002c0005t0006g0017 a0002c0005t0006g0018 a0002c0009t0014g0037 a0002c0009t0016g0035 a0002c0011t0002g0118 a0002c0011t0002g0120 a0002c0011t0002g0220 a0013c0018t0002g0119	17	250	0.0680	-36	c.596 others(51): Show c.596+291_596+326delGCCCCGGCCCCCGCCCCGCGCCCCGGCCCC GGCCCC		ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	3/5						chr2	TogoVar
ASB4_chr7_95480943_95545233	95515163	CTTTCTCT others(29): Show CTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02896.hp1 HG01192.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0309 a0001c0001t0011g0021 a0001c0001t0003g0309 a0001c0001t0011g0021	2	388	0.0052	-36	c.488 others(55): Show c.488-12648_488-12613delTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT		ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB5_chr4_176208673_176274222	176219539	TATATGTA others(29): Show TATATGTATGATATATAAATATGTATATATTTGTATG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02572.hp2 HG01123.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0193 a0001c0001t0001g0133 a0001c0001t0001g0193	2	410	0.0049	-36	c.670 others(53): Show c.670+1580_670+1615delCATACAAATATATACATATTTATATATC ATACATAT		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASDURF_chr2_189656459_189671401	189665596	GTGTATAT others(29): Show GTGTATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02055.hp1 HG03225.hp1 others(3): Show HG01069.hp1 HG02055.hp1 HG03225.hp1 HG03471.hp2 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	6	340	0.0177	-36	c.220 others(51): Show c.220+147_220+182delGTATATATATATATATATATATATATATAT ATATAT		ASDURF	ENSG00000286053.2	transcript	ENST00000607829.6	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASMTL_chrX_1398139_1457909	1450519	ATCACACT others(29): Show ATCACACTCCCCTCCCCCATCACTAGGGCATCCTGGG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03486.hp2 NA21309.hp1 HG02109.hp1 HG03486.hp2 NA21309.hp1	a0002 a0003 a0002 a0003	a0002c0004 a0003c0002 a0003c0029 a0002c0004 a0003c0002 a0003c0029	a0002c0004t0001 a0003c0002t0001 a0003c0029t0001 a0002c0004t0001 a0003c0002t0001 a0003c0029t0001	a0002c0004t0001g0149 a0003c0002t0001g0150 a0003c0029t0001g0151 a0002c0004t0001g0149 a0003c0002t0001g0150 a0003c0029t0001g0151	3	185	0.0162	-36	c.93+ others(51): Show c.93+2193_93+2228delCCCAGGATGCCCTAGTGATGGGGGAGGGGA GTGTGA		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12						chrX	TogoVar
ASMTL_chrX_1398139_1457909	1451171	TCCCTAGG others(29): Show TCCCTAGGGGGTCCTGGGACACTCCTCCCTCCCCATC	T T	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0163 a0003c0002t0001g0163	1	185	0.0054	-36	c.93+ others(51): Show c.93+1541_93+1576delGATGGGGAGGGAGGAGTGTCCCAGGACCCC CTAGGG		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12						chrX	TogoVar
ASMTL_chrX_1398139_1457909	1451175	TAGGGGGT others(29): Show TAGGGGGTCCTGGGACACTCCTCCCTCCCCATCCCTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(141): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02723.hp1 HG02886.hp2 HG03041.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18940.hp2 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(15): Show a0000 a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0011 a0012 a0013 a0015 a0017 a0018 a0019 a0020 a0021 a0022	a0000c0007 a0000c0030 a0000c0039 others(29): Show a0000c0007 a0000c0030 a0000c0039 a0000c0043 a0001c0001 a0001c0008 a0001c0013 a0001c0035 a0002c0003 a0002c0004 a0002c0009 a0002c0012 a0002c0014 a0002c0031 a0002c0034 a0003c0002 a0003c0005 a0004c0006 a0004c0010 a0005c0038 a0008c0018 a0009c0020 a0011c0023 a0012c0024 a0013c0036 a0015c0026 a0017c0022 a0018c0032 a0019c0021 a0020c0045 a0021c0019 a0022c0046	a0000c0007t0001 a0000c0030t0001 a0000c0039t0001 others(30): Show a0000c0007t0001 a0000c0030t0001 a0000c0039t0001 a0000c0043t0001 a0001c0001t0001 a0001c0008t0001 a0001c0013t0001 a0001c0035t0001 a0002c0003t0001 a0002c0004t0001 a0002c0009t0001 a0002c0012t0001 a0002c0014t0001 a0002c0031t0001 a0002c0034t0001 a0003c0002t0001 a0003c0002t0002 a0003c0005t0001 a0004c0006t0001 a0004c0010t0001 a0005c0038t0001 a0008c0018t0001 a0009c0020t0001 a0011c0023t0001 a0012c0024t0001 a0013c0036t0001 a0015c0026t0001 a0017c0022t0001 a0018c0032t0001 a0019c0021t0001 a0020c0045t0001 a0021c0019t0001 a0022c0046t0004	a0000c0007t0001g0033 a0000c0007t0001g0034 a0000c0007t0001g0043 others(141): Show a0000c0007t0001g0033 a0000c0007t0001g0034 a0000c0007t0001g0043 a0000c0007t0001g0044 a0000c0007t0001g0061 a0000c0007t0001g0086 a0000c0007t0001g0092 a0000c0007t0001g0126 a0000c0030t0001g0026 a0000c0039t0001g0148 a0000c0043t0001g0069 a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0156 a0001c0001t0001g0180 a0001c0008t0001g0004 a0001c0008t0001g0032 a0001c0008t0001g0045 a0001c0008t0001g0088 a0001c0008t0001g0094 a0001c0008t0001g0127 a0001c0008t0001g0145 a0001c0008t0001g0154 a0001c0013t0001g0068 a0001c0035t0001g0122 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0042 a0002c0003t0001g0073 a0002c0003t0001g0091 a0002c0003t0001g0093 a0002c0003t0001g0104 a0002c0003t0001g0112 a0002c0003t0001g0143 a0002c0003t0001g0153 a0002c0004t0001g0030 a0002c0004t0001g0038 a0002c0004t0001g0065 a0002c0004t0001g0066 a0002c0004t0001g0077 a0002c0004t0001g0078 a0002c0004t0001g0089 a0002c0004t0001g0096 a0002c0004t0001g0124 a0002c0004t0001g0134 a0002c0004t0001g0138 a0002c0009t0001g0072 a0002c0009t0001g0111 a0002c0009t0001g0119 a0002c0009t0001g0128 a0002c0012t0001g0074 a0002c0012t0001g0095 a0002c0012t0001g0103 a0002c0014t0001g0015 a0002c0031t0001g0131 a0002c0034t0001g0136 a0003c0002t0001g0003 a0003c0002t0001g0027 a0003c0002t0001g0028 a0003c0002t0001g0047 a0003c0002t0001g0064 a0003c0002t0001g0071 a0003c0002t0001g0079 a0003c0002t0001g0080 a0003c0002t0001g0108 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0130 a0003c0002t0001g0140 a0003c0002t0001g0141 a0003c0002t0001g0142 a0003c0002t0001g0144 a0003c0002t0002g0183 a0003c0005t0001g0035 a0003c0005t0001g0036 a0003c0005t0001g0037 a0003c0005t0001g0090 a0003c0005t0001g0097 a0003c0005t0001g0132 a0003c0005t0001g0139 a0003c0005t0001g0146 a0003c0005t0001g0179 a0004c0006t0001g0016 a0004c0006t0001g0025 a0004c0006t0001g0058 a0004c0006t0001g0059 a0004c0006t0001g0084 a0004c0006t0001g0102 a0004c0006t0001g0133 a0004c0006t0001g0135 a0004c0010t0001g0029 a0004c0010t0001g0082 a0004c0010t0001g0123 a0004c0010t0001g0125 a0005c0038t0001g0113 a0008c0018t0001g0181 a0008c0018t0001g0182 a0009c0020t0001g0063 a0011c0023t0001g0155 a0012c0024t0001g0054 a0013c0036t0001g0147 a0015c0026t0001g0114 a0017c0022t0001g0017 a0018c0032t0001g0105 a0019c0021t0001g0101 a0020c0045t0001g0046 a0021c0019t0001g0067 a0022c0046t0004g0184	144	185	0.7784	-36	c.93+ others(51): Show c.93+1537_93+1572delTAGGGATGGGGAGGGAGGAGTGTCCCAGGA CCCCCT		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12						chrX	TogoVar
ASNSD1_chr2_189656459_189675831	189665596	GTGTATAT others(29): Show GTGTATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02055.hp1 HG03225.hp1 others(3): Show HG01069.hp1 HG02055.hp1 HG03225.hp1 HG03471.hp2 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	6	340	0.0177	-36	c.-93 others(51): Show c.-93+147_-93+182delGTATATATATATATATATATATATATATAT ATATAT		ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASPH_chr8_61495556_61719592	61561075	AGAGGGAG others(29): Show AGAGGGAGGGAGGGAGGGAGGGAGAGAGGGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03688.hp2 HG01175.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0017 a0001c0012t0017 a0001c0001t0017 a0001c0012t0017	a0001c0001t0017g0032 a0001c0012t0017g0043 a0001c0001t0017g0032 a0001c0012t0017g0043	2	258	0.0078	-36	c.143 others(55): Show c.1437+1633_1437+1668delCCTCCCTCCCTCTCTCCCTCCCTCCC TCCCTCCCTC		ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	18/24						chr8	TogoVar
ASPM_chr1_197079127_197151669	197148413	GCCTCACA others(29): Show GCCTCACAAGTCATTTCCAGTTCTCCTCAGCATCTAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	296	0.0034	-36	c.-20 others(47): Show c.-2012_-1977delGTAGATGCTGAGGAGAACTGGAAATGACTTGTGA GG		ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding					1745		chr1	TogoVar
ASRGL1_chr11_62332448_62398412	62375428	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02622.hp1 HG02630.hp2 others(4): Show HG02056.hp1 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02970.hp2 NA18939.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 a0001c0001 a0001c0005 a0002c0004	a0001c0001t0021 a0001c0001t0038 a0001c0005t0040 others(3): Show a0001c0001t0021 a0001c0001t0038 a0001c0005t0040 a0001c0005t0041 a0002c0004t0034 a0002c0004t0035	a0001c0001t0021g0335 a0001c0001t0021g0337 a0001c0001t0038g0338 others(4): Show a0001c0001t0021g0335 a0001c0001t0021g0337 a0001c0001t0038g0338 a0001c0005t0040g0314 a0001c0005t0041g0313 a0002c0004t0034g0184 a0002c0004t0035g0183	7	370	0.0189	-36	c.492 others(55): Show c.492-13687_492-13652delATATATATATATATATATATATATAT ATATATATAT		ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
ASTN1_chr1_176856067_177169712	176942818	GTGTATAT others(29): Show GTGTATATATATATATATGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0054 a0001c0001t0018g0054	1	112	0.0089	-36	c.237 others(55): Show c.2377+1037_2377+1072delTATATATATATATATATACATATATA TATATATACA		ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	14/22						chr1	TogoVar
ASTN2_chr9_116418112_117420057	116530094	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0077 a0001c0001t0005g0077	1	102	0.0098	-36	c.335 others(57): Show c.3356-42630_3356-42595delATATATATATATATATATATATAT ATATATATATAT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116530116	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG01169.hp1 others(11): Show HG00639.hp1 HG00735.hp1 HG01169.hp1 HG01243.hp2 HG02109.hp2 HG02572.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG03130.hp2 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0011	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0003t0004 a0001c0003t0005 a0001c0007t0001 a0001c0008t0005 a0001c0011t0004	a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0100 others(11): Show a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0100 a0001c0001t0005g0035 a0001c0001t0006g0016 a0001c0002t0001g0033 a0001c0002t0001g0093 a0001c0003t0004g0085 a0001c0003t0005g0082 a0001c0007t0001g0010 a0001c0007t0001g0011 a0001c0008t0005g0073 a0001c0008t0005g0081 a0001c0011t0004g0097	14	102	0.1373	-36	c.335 others(57): Show c.3356-42652_3356-42617delTTATATATATATATATATATATAT ATATATATATAT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22						chr9	TogoVar
ASXL1_chr20_32353331_32444319	32397214	TTTTTTTT others(29): Show TTTTTTTTTTTTTGTGGGGTGAGCGACCATGCCTGGC	T T	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0258 a0001c0002t0002g0258	1	282	0.0036	-36	c.252 others(55): Show c.252+28104_252+28139delGTGGGGTGAGCGACCATGCCTGGCTT TTTTTTTTTT		ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
ATAD5_chr17_30826966_30900869	30850851	ATATATAT others(29): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02129.hp2 HG02083.hp1 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0044 a0002c0002t0002g0051 a0002c0002t0002g0044 a0002c0002t0002g0051	2	286	0.0070	-36	c.245 others(55): Show c.2451-4290_2451-4255delATATATATATATATATATTTTTTTTT TTTTTTTTTT		ATAD5	ENSG00000176208.9	transcript	ENST00000321990.5	protein_coding	6/22					INFO_REALIGN_3_PRIME	chr17	TogoVar
ATF7IP2_chr16_10381061_10488638	10481351	CTCCCGAG others(29): Show CTCCCGAGTAGCTGGGATTTCCCGAGTAGCTGGGATT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(154): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG01069.hp2 HG01074.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02129.hp2 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18978.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19072.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0003 a0001c0007 a0001c0016 others(6): Show a0001c0003 a0001c0007 a0001c0016 a0002c0001 a0002c0008 a0002c0010 a0002c0019 a0007c0018 a0008c0020	a0001c0003t0020 a0001c0007t0011 a0001c0016t0015 others(11): Show a0001c0003t0020 a0001c0007t0011 a0001c0016t0015 a0002c0001t0001 a0002c0001t0002 a0002c0001t0009 a0002c0001t0012 a0002c0001t0014 a0002c0001t0024 a0002c0008t0010 a0002c0010t0002 a0002c0019t0001 a0007c0018t0010 a0008c0020t0002	a0001c0003t0020g0215 a0001c0007t0011g0352 a0001c0007t0011g0353 others(152): Show a0001c0003t0020g0215 a0001c0007t0011g0352 a0001c0007t0011g0353 a0001c0007t0011g0354 a0001c0007t0011g0355 a0001c0016t0015g0323 a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0007 a0002c0001t0001g0008 a0002c0001t0001g0009 a0002c0001t0001g0010 a0002c0001t0001g0011 a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0001t0001g0014 a0002c0001t0001g0016 a0002c0001t0001g0017 a0002c0001t0001g0018 a0002c0001t0001g0019 a0002c0001t0001g0020 a0002c0001t0001g0021 a0002c0001t0001g0022 a0002c0001t0001g0023 a0002c0001t0001g0024 a0002c0001t0001g0039 a0002c0001t0001g0040 a0002c0001t0001g0041 a0002c0001t0001g0042 a0002c0001t0001g0043 a0002c0001t0001g0046 a0002c0001t0001g0047 a0002c0001t0001g0048 a0002c0001t0001g0049 a0002c0001t0001g0050 a0002c0001t0001g0051 a0002c0001t0001g0052 a0002c0001t0001g0053 a0002c0001t0001g0054 a0002c0001t0001g0055 a0002c0001t0001g0056 a0002c0001t0001g0057 a0002c0001t0001g0059 a0002c0001t0001g0061 a0002c0001t0001g0062 a0002c0001t0001g0063 a0002c0001t0001g0064 a0002c0001t0001g0065 a0002c0001t0001g0066 a0002c0001t0001g0075 a0002c0001t0001g0086 a0002c0001t0001g0089 a0002c0001t0001g0092 a0002c0001t0001g0098 a0002c0001t0001g0099 a0002c0001t0001g0100 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0104 a0002c0001t0001g0105 a0002c0001t0001g0106 a0002c0001t0001g0108 a0002c0001t0001g0109 a0002c0001t0001g0110 a0002c0001t0001g0117 a0002c0001t0001g0118 a0002c0001t0001g0119 a0002c0001t0001g0120 a0002c0001t0001g0122 a0002c0001t0001g0124 a0002c0001t0001g0125 a0002c0001t0001g0128 a0002c0001t0001g0129 a0002c0001t0001g0130 a0002c0001t0001g0133 a0002c0001t0001g0135 a0002c0001t0001g0136 a0002c0001t0001g0138 a0002c0001t0001g0139 a0002c0001t0001g0143 a0002c0001t0001g0144 a0002c0001t0001g0147 a0002c0001t0001g0151 a0002c0001t0001g0152 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0170 a0002c0001t0001g0173 a0002c0001t0001g0175 a0002c0001t0001g0178 a0002c0001t0001g0179 a0002c0001t0001g0180 a0002c0001t0001g0181 a0002c0001t0001g0182 a0002c0001t0001g0183 a0002c0001t0001g0184 a0002c0001t0001g0185 a0002c0001t0001g0186 a0002c0001t0001g0188 a0002c0001t0001g0191 a0002c0001t0001g0192 a0002c0001t0001g0193 a0002c0001t0001g0366 a0002c0001t0002g0015 a0002c0001t0002g0036 a0002c0001t0002g0044 a0002c0001t0002g0045 a0002c0001t0002g0058 a0002c0001t0002g0088 a0002c0001t0002g0091 a0002c0001t0002g0093 a0002c0001t0002g0094 a0002c0001t0002g0095 a0002c0001t0002g0096 a0002c0001t0002g0103 a0002c0001t0002g0107 a0002c0001t0002g0111 a0002c0001t0002g0112 a0002c0001t0002g0114 a0002c0001t0002g0115 a0002c0001t0002g0116 a0002c0001t0002g0131 a0002c0001t0002g0132 a0002c0001t0002g0140 a0002c0001t0002g0141 a0002c0001t0002g0142 a0002c0001t0002g0146 a0002c0001t0002g0148 a0002c0001t0002g0150 a0002c0001t0002g0153 a0002c0001t0002g0155 a0002c0001t0002g0164 a0002c0001t0002g0165 a0002c0001t0002g0166 a0002c0001t0002g0190 a0002c0001t0009g0169 a0002c0001t0009g0171 a0002c0001t0009g0172 a0002c0001t0009g0174 a0002c0001t0009g0176 a0002c0001t0012g0090 a0002c0001t0012g0097 a0002c0001t0012g0123 a0002c0001t0014g0073 a0002c0001t0014g0074 a0002c0001t0024g0177 a0002c0008t0010g0031 a0002c0008t0010g0032 a0002c0008t0010g0033 a0002c0008t0010g0034 a0002c0010t0002g0145 a0002c0010t0002g0154 a0002c0019t0001g0187 a0007c0018t0010g0035 a0008c0020t0002g0006	157	376	0.4176	-36	c.163 others(53): Show c.1635+424_1636-413delTCCCGAGTAGCTGGGATTTCCCGAGTAG CTGGGATT		ATF7IP2	ENSG00000166669.14	transcript	ENST00000562102.6	protein_coding	13/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
ATG2B_chr14_96274195_96368341	96308248	ATATACAC others(29): Show ATATACACACATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0260 a0001c0002t0001g0260	1	356	0.0028	-36	c.430 others(55): Show c.4303+1169_4303+1204delAATATATATATATATATATATATATA TGTGTGTATA		ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	29/41						chr14	TogoVar
ATG4A_chrX_108086778_108159671	108148020	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03486.hp2 HG03540.hp1 HG02622.hp1 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167	3	249	0.0121	-36	c.815 others(53): Show c.815-2111_815-2076delATATATATATATATATATATATATATAT ATATATAT		ATG4A	ENSG00000101844.18	transcript	ENST00000372232.8	protein_coding	9/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
ATL2_chr2_38288954_38382273	38325663	CACACACA others(29): Show CACACACACACACACACACACACACACACACACCAGT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01975.hp2 others(8): Show HG01069.hp2 HG01071.hp1 HG01975.hp2 HG02258.hp1 HG02717.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0006 a0001c0001 a0001c0003 a0002c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0003t0004 a0002c0006t0004	a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0083 others(8): Show a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0083 a0001c0001t0002g0101 a0001c0001t0004g0058 a0001c0001t0004g0060 a0001c0001t0004g0064 a0001c0001t0009g0097 a0001c0001t0011g0070 a0001c0003t0004g0131 a0002c0006t0004g0168	11	236	0.0466	-36	c.364 others(53): Show c.364-6680_364-6645delACTGGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT		ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12						chr2	TogoVar
ATN1_chr12_6922959_6947321	6936728	ACAGCAGC others(29): Show ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02723.hp2 HG02723.hp2	a0023 a0023	a0023c0048 a0023c0048	a0023c0048t0004 a0023c0048t0004	a0023c0048t0004g0005 a0023c0048t0004g0005	1	414	0.0024	-36	c.147 others(45): Show c.1473_1508delGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln491_Gln502del	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2061/4702	1473/3573	491/1190		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP11A_chr13_112685038_112892168	112731168	CCAGTGAT others(29): Show CCAGTGATCCACCCTCCTCAGCCTCCAAAATGCTCCA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0002 a0014c0023t0002	a0014c0023t0002g0064 a0014c0023t0002g0064	1	254	0.0039	-36	c.39+ others(53): Show c.39+40714_39+40749delCAGTGATCCACCCTCCTCAGCCTCCAAA ATGCTCCA		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29						chr13	TogoVar

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