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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
DDX54_chr12_113152173_113190478	113185463	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG02071.hp1 others(29): Show HG00408.hp1 HG00438.hp2 HG02071.hp1 HG02155.hp2 HG04115.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18951.hp2 NA18954.hp2 NA18957.hp2 NA18962.hp1 NA18969.hp2 NA18972.hp1 NA18974.hp2 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18998.hp1 NA19006.hp1 NA19012.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19075.hp1 NA19079.hp2 NA19083.hp1 NA19085.hp1	a0002 a0017 a0002 a0017	a0002c0002 a0017c0014 a0002c0002 a0017c0014	a0002c0002t0002 a0002c0002t0006 a0017c0014t0002 a0002c0002t0002 a0002c0002t0006 a0017c0014t0002	a0002c0002t0002g0003 a0002c0002t0002g0019 a0002c0002t0002g0020 others(10): Show a0002c0002t0002g0003 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0006g0021 a0002c0002t0006g0038 a0017c0014t0002g0044	32	306	0.1046	0	c.-12 others(3): Show c.-12C>A	DDX54	ENSG00000123064.13	transcript	ENST00000306014.10	protein_coding	1/20	12		chr12	TogoVar
DDX55_chr12_123597099_123625943	123602109	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01256.hp1 others(26): Show HG01109.hp2 HG01243.hp1 HG01256.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03209.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG03942.hp2 HG04199.hp2 NA18522.hp1 NA19030.hp2 NA21309.hp1 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0002c0007 a0002c0011 others(1): Show a0002c0004 a0002c0007 a0002c0011 a0004c0009	a0002c0004t0012 a0002c0004t0015 a0002c0004t0019 others(14): Show a0002c0004t0012 a0002c0004t0015 a0002c0004t0019 a0002c0004t0031 a0002c0004t0032 a0002c0004t0033 a0002c0004t0034 a0002c0004t0035 a0002c0004t0075 a0002c0004t0076 a0002c0004t0077 a0002c0007t0012 a0002c0007t0072 a0002c0011t0034 a0004c0009t0019 a0004c0009t0073 a0004c0009t0074	a0002c0004t0012g0004 a0002c0004t0012g0061 a0002c0004t0015g0004 others(23): Show a0002c0004t0012g0004 a0002c0004t0012g0061 a0002c0004t0015g0004 a0002c0004t0015g0032 a0002c0004t0015g0060 a0002c0004t0019g0058 a0002c0004t0031g0004 a0002c0004t0031g0059 a0002c0004t0032g0004 a0002c0004t0032g0057 a0002c0004t0033g0004 a0002c0004t0033g0046 a0002c0004t0034g0021 a0002c0004t0035g0021 a0002c0004t0035g0055 a0002c0004t0075g0004 a0002c0004t0076g0054 a0002c0004t0077g0021 a0002c0007t0012g0019 a0002c0007t0012g0048 a0002c0007t0012g0049 a0002c0007t0072g0019 a0002c0011t0034g0056 a0004c0009t0019g0012 a0004c0009t0073g0012 a0004c0009t0074g0012	29	304	0.0954	0	c.-40 others(3): Show c.-40C>T	DDX55	ENSG00000111364.16	transcript	ENST00000238146.9	protein_coding	1/14	40		chr12	TogoVar
DDX55_chr12_123597099_123625943	123602117	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0071 a0001c0002t0071	a0001c0002t0071g0088 a0001c0002t0071g0088	1	304	0.0033	0	c.-32 others(3): Show c.-32C>G	DDX55	ENSG00000111364.16	transcript	ENST00000238146.9	protein_coding	1/14	32		chr12	TogoVar
DDX55_chr12_123597099_123625943	123602145	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0001 a0001c0001t0036g0001	1	304	0.0033	0	c.-4C others(2): Show c.-4C>A	DDX55	ENSG00000111364.16	transcript	ENST00000238146.9	protein_coding	1/14	4		chr12	TogoVar
DDX59_chr1_200639037_200674907	200669862	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01106.hp1 HG01361.hp2 HG01516.hp1 others(1): Show HG01106.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0008 a0004c0007t0008 a0001c0001t0008 a0004c0007t0008	a0001c0001t0008g0064 a0001c0001t0008g0065 a0001c0001t0008g0066 others(1): Show a0001c0001t0008g0064 a0001c0001t0008g0065 a0001c0001t0008g0066 a0004c0007t0008g0063	4	390	0.0103	0	c.-10 others(4): Show c.-107G>A	DDX59	ENSG00000118197.14	transcript	ENST00000331314.11	protein_coding	1/8	3122		chr1	TogoVar
DDX59_chr1_200639037_200674907	200669895	T T	TGCGGA TGCGGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02145.hp1 HG03704.hp1 NA18972.hp1 HG02145.hp1 HG03704.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0003t0011 a0001c0001t0011 a0001c0003t0011	a0001c0001t0011g0219 a0001c0001t0011g0220 a0001c0003t0011g0218 a0001c0001t0011g0219 a0001c0001t0011g0220 a0001c0003t0011g0218	3	390	0.0077	5	c.-14 others(14): Show c.-145_-141dupTCCGC	DDX59	ENSG00000118197.14	transcript	ENST00000331314.11	protein_coding	1/8	3156		chr1	TogoVar
DDX59_chr1_200639037_200674907	200669895	T T	TGCGGAGC others(3): Show TGCGGAGCGGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0275 a0001c0001t0016g0275	1	390	0.0026	10	c.-15 others(19): Show c.-150_-141dupTCCGCTCCGC	DDX59	ENSG00000118197.14	transcript	ENST00000331314.11	protein_coding	1/8	3156		chr1	TogoVar
DDX59_chr1_200639037_200674907	200669895	T T	TGCGGAGC others(8): Show TGCGGAGCGGAGCGGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02723.hp2 HG02896.hp1 HG02723.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0277 a0001c0001t0014g0278 a0001c0001t0014g0277 a0001c0001t0014g0278	2	390	0.0051	15	c.-14 others(24): Show c.-141_-140insTCCGCTCCGCTCCGC	DDX59	ENSG00000118197.14	transcript	ENST00000331314.11	protein_coding	1/8	3156		chr1	TogoVar
DDX59_chr1_200639037_200674907	200669895	T T	TGCGGG TGCGGG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02004.hp1 HG02109.hp1 HG02818.hp1 others(1): Show HG02004.hp1 HG02109.hp1 HG02818.hp1 HG02922.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0009 a0003c0006t0009 a0001c0001t0009 a0003c0006t0009	a0001c0001t0009g0216 a0001c0001t0009g0217 a0003c0006t0009g0044 a0001c0001t0009g0216 a0001c0001t0009g0217 a0003c0006t0009g0044	4	390	0.0103	5	c.-14 others(14): Show c.-141_-140insCCCGC	DDX59	ENSG00000118197.14	transcript	ENST00000331314.11	protein_coding	1/8	3156		chr1	TogoVar
DDX59_chr1_200639037_200674907	200669895	T T	TGCGGGGC others(3): Show TGCGGGGCGGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp2 others(102): Show HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00544.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01261.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02055.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03540.hp2 HG03688.hp2 HG03927.hp2 HG04199.hp1 HG04228.hp2 NA18943.hp2 NA18946.hp1 NA18947.hp2 NA18953.hp1 NA18955.hp2 NA18971.hp2 NA18973.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18987.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp1 NA18997.hp2 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19065.hp2 NA19068.hp2 NA19076.hp1 NA19079.hp1 NA19080.hp1 NA19083.hp2 NA19086.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0008	a0001c0001t0003 a0001c0001t0010 a0001c0003t0003 others(3): Show a0001c0001t0003 a0001c0001t0010 a0001c0003t0003 a0001c0004t0003 a0001c0005t0003 a0001c0008t0003	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0017 others(64): Show a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0246 a0001c0001t0003g0250 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0010g0248 a0001c0001t0010g0249 a0001c0001t0010g0251 a0001c0001t0010g0268 a0001c0003t0003g0270 a0001c0004t0003g0226 a0001c0004t0003g0232 a0001c0004t0003g0233 a0001c0004t0003g0234 a0001c0004t0003g0235 a0001c0005t0003g0245 a0001c0005t0003g0247 a0001c0008t0003g0269	105	390	0.2692	10	c.-14 others(19): Show c.-141_-140insTCCGCCCCGC	DDX59	ENSG00000118197.14	transcript	ENST00000331314.11	protein_coding	1/8	3156		chr1	TogoVar
DDX59_chr1_200639037_200674907	200669895	T T	TGCGGGGC others(8): Show TGCGGGGCGGAGCGGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01891.hp2 HG03139.hp1 NA20805.hp2 HG01891.hp2 HG03139.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0051 a0001c0001t0012g0276 a0001c0001t0012g0051 a0001c0001t0012g0276	3	390	0.0077	15	c.-14 others(24): Show c.-141_-140insTCCGCTCCGCCCCGC	DDX59	ENSG00000118197.14	transcript	ENST00000331314.11	protein_coding	1/8	3156		chr1	TogoVar
DDX59_chr1_200639037_200674907	200669895	T T	TGCGGGGC others(13): Show TGCGGGGCGGAGCGGAGCGGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0279 a0001c0001t0017g0279	1	390	0.0026	20	c.-14 others(29): Show c.-141_-140insTCCGCTCCGCTCCGCCCCGC	DDX59	ENSG00000118197.14	transcript	ENST00000331314.11	protein_coding	1/8	3156		chr1	TogoVar
DDX59_chr1_200639037_200674907	200669895	T T	TGCGGGGC others(18): Show TGCGGGGCGGAGCGGAGCGGAGCGGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0280 a0001c0003t0018g0280	1	390	0.0026	25	c.-14 others(34): Show c.-141_-140insTCCGCTCCGCTCCGCTCCGCCCCGC	DDX59	ENSG00000118197.14	transcript	ENST00000331314.11	protein_coding	1/8	3156		chr1	TogoVar
DDX59_chr1_200639037_200674907	200669895	T T	TGCGGGGC others(8): Show TGCGGGGCGGGGCGGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18989.hp2 NA18993.hp2 NA18989.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0273 a0001c0001t0013g0274 a0001c0001t0013g0273 a0001c0001t0013g0274	2	390	0.0051	15	c.-14 others(24): Show c.-141_-140insTCCGCCCCGCCCCGC	DDX59	ENSG00000118197.14	transcript	ENST00000331314.11	protein_coding	1/8	3156		chr1	TogoVar
DDX59_chr1_200639037_200674907	200669895	TGCGGA TGCGGA	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01109.hp1 others(8): Show HG00099.hp1 HG00741.hp1 HG01109.hp1 HG01175.hp2 HG02055.hp2 HG02895.hp1 HG03139.hp2 HG03195.hp2 HG03579.hp2 HG03831.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0007 a0001c0003t0004 a0001c0001t0004 a0001c0001t0007 a0001c0003t0004	a0001c0001t0004g0058 a0001c0001t0007g0054 a0001c0001t0007g0055 others(6): Show a0001c0001t0004g0058 a0001c0001t0007g0054 a0001c0001t0007g0055 a0001c0001t0007g0056 a0001c0001t0007g0057 a0001c0003t0004g0024 a0001c0003t0004g0025 a0001c0003t0004g0052 a0001c0003t0004g0053	11	390	0.0282	-5	c.-14 others(14): Show c.-145_-141delTCCGC	DDX59	ENSG00000118197.14	transcript	ENST00000331314.11	protein_coding	1/8	3156		chr1	TogoVar
DDX59_chr1_200639037_200674907	200669900	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01070.hp2 HG01123.hp1 HG01258.hp2 others(3): Show HG01070.hp2 HG01123.hp1 HG01258.hp2 HG02148.hp2 HG02257.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0005 a0001c0001t0005 a0001c0003t0005	a0001c0001t0005g0026 a0001c0001t0005g0059 a0001c0001t0005g0060 others(2): Show a0001c0001t0005g0026 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0003t0005g0062	6	390	0.0154	0	c.-14 others(4): Show c.-145T>C	DDX59	ENSG00000118197.14	transcript	ENST00000331314.11	protein_coding	1/8	3160		chr1	TogoVar
DDX5_chr17_64493254_64511289	64506255	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0023 a0001c0001t0013g0023	1	370	0.0027	0	c.-13 others(4): Show c.-136G>C	DDX5	ENSG00000108654.16	transcript	ENST00000225792.10	protein_coding	1/13	136		chr17	TogoVar
DDX5_chr17_64493254_64511289	64506268	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0076 a0001c0001t0034g0076	1	370	0.0027	0	c.-14 others(4): Show c.-149C>T	DDX5	ENSG00000108654.16	transcript	ENST00000225792.10	protein_coding	1/13	149		chr17	TogoVar
DDX5_chr17_64493254_64511289	64506283	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0022 a0001c0001t0012g0022	1	370	0.0027	0	c.-16 others(4): Show c.-164T>C	DDX5	ENSG00000108654.16	transcript	ENST00000225792.10	protein_coding	1/13	164		chr17	TogoVar
DDX60L_chr4_168351735_168485492	168472723	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0012 a0011c0010t0012	a0011c0010t0012g0149 a0011c0010t0012g0149	1	268	0.0037	0	c.-24 others(3): Show c.-24C>G	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	2/38	24		chr4	TogoVar
DDX60L_chr4_168351735_168485492	168472730	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18948.hp2 NA19001.hp1 NA19065.hp2 NA18948.hp2 NA19001.hp1 NA19065.hp2	a0003 a0007 a0003 a0007	a0003c0001 a0007c0020 a0003c0001 a0007c0020	a0003c0001t0013 a0007c0020t0008 a0003c0001t0013 a0007c0020t0008	a0003c0001t0013g0231 a0007c0020t0008g0195 a0007c0020t0008g0196 a0003c0001t0013g0231 a0007c0020t0008g0195 a0007c0020t0008g0196	3	268	0.0112	0	c.-31 others(3): Show c.-31C>T	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	2/38	31		chr4	TogoVar
DDX60_chr4_168211294_168323752	168311317	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	270	0.0037	0	c.-58 others(3): Show c.-58G>A	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	2/38	58		chr4	TogoVar
DDX6_chr11_118742763_118796164	118791126	G G	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0362 a0001c0001t0107g0362	1	370	0.0027	0	c.-29 others(4): Show c.-296C>G	DDX6	ENSG00000110367.14	transcript	ENST00000534980.7	protein_coding	1/14	4875		chr11	TogoVar
DEDD_chr1_161115974_161137667	161132613	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02015.hp1 NA18965.hp1 NA18988.hp2 others(1): Show HG02015.hp1 NA18965.hp1 NA18988.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	4	338	0.0118	0	c.-16 others(4): Show c.-160G>A	DEDD	ENSG00000158796.17	transcript	ENST00000368006.8	protein_coding	1/6	8151		chr1	TogoVar
DEDD_chr1_161115974_161137667	161132631	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0075 a0001c0001t0006g0075	1	338	0.0030	0	c.-17 others(4): Show c.-178G>T	DEDD	ENSG00000158796.17	transcript	ENST00000368006.8	protein_coding	1/6	8169		chr1	TogoVar
DEF6_chr6_35292818_35326771	35297834	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0149 a0001c0001t0005g0149	1	326	0.0031	0	c.-23 others(3): Show c.-23C>G	DEF6	ENSG00000023892.12	transcript	ENST00000316637.7	protein_coding	1/11	23		chr6	TogoVar
DEF8_chr16_89943755_89973060	89948768	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0059 a0001c0001t0027g0059	1	392	0.0026	0	c.-15 others(4): Show c.-154C>G	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/13	5485		chr16	TogoVar
DEF8_chr16_89943755_89973060	89948793	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp2 HG01175.hp2 HG02015.hp1 others(31): Show HG00438.hp2 HG01175.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02965.hp1 HG03516.hp1 NA18612.hp2 NA18940.hp2 NA18943.hp1 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18982.hp2 NA18984.hp2 NA18990.hp2 NA19058.hp1 NA19062.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0016 a0001c0002t0017 a0001c0001t0002 a0001c0001t0016 a0001c0002t0017	a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0093 others(12): Show a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0093 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0016g0182 a0001c0001t0016g0186 a0001c0002t0017g0082 a0001c0002t0017g0083	34	392	0.0867	0	c.-12 others(4): Show c.-129A>G	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/13	5460		chr16	TogoVar
DEFA1B_chr8_6991766_7004198	6997759	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0006 a0004c0009t0006	a0004c0009t0006g0031 a0004c0009t0006g0031	1	398	0.0025	0	c.-8C others(2): Show c.-8C>A	DEFA1B	ENSG00000240247.8	transcript	ENST00000382689.8	protein_coding	2/3	8		chr8	TogoVar
DEFA1_chr8_6972649_6985092	6980081	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02280.hp1 others(21): Show HG01884.hp1 HG02055.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03516.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0031 a0001c0001t0004g0005 a0001c0001t0004g0031	24	408	0.0588	0	c.-81 others(3): Show c.-81G>C	DEFA1	ENSG00000206047.4	transcript	ENST00000382692.3	protein_coding	1/3	1447		chr8	TogoVar
DEFA3_chr8_7010869_7023297	7016853	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0006 a0007c0009t0006	a0007c0009t0006g0037 a0007c0009t0006g0037	1	430	0.0023	0	c.-3G others(2): Show c.-3G>C	DEFA3	ENSG00000239839.7	transcript	ENST00000327857.7	protein_coding	2/3	3		chr8	TogoVar
DEFA3_chr8_7010869_7023297	7016858	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02055.hp1 others(17): Show HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02280.hp2 HG02451.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp2 NA19240.hp1 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0005 a0003c0003t0003 a0003c0003t0005	a0003c0003t0003g0006 a0003c0003t0003g0018 a0003c0003t0005g0028 a0003c0003t0003g0006 a0003c0003t0003g0018 a0003c0003t0005g0028	20	430	0.0465	0	c.-8C others(2): Show c.-8C>A	DEFA3	ENSG00000239839.7	transcript	ENST00000327857.7	protein_coding	2/3	8		chr8	TogoVar
DEFA3_chr8_7010869_7023297	7018270	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02735.hp2 HG03831.hp2 HG02735.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0027 a0002c0002t0004g0027	2	430	0.0047	0	c.-61 others(3): Show c.-61G>A	DEFA3	ENSG00000239839.7	transcript	ENST00000327857.7	protein_coding	1/3	1420		chr8	TogoVar
DEFA4_chr8_6930820_6943306	6938246	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG01106.hp2 others(4): Show HG00738.hp1 HG01081.hp1 HG01106.hp2 HG01255.hp2 HG01257.hp1 HG01361.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	7	486	0.0144	0	c.-33 others(3): Show c.-33C>T	DEFA4	ENSG00000164821.5	transcript	ENST00000297435.3	protein_coding	1/3	1347		chr8	TogoVar
DEFA5_chr8_7050304_7061739	7056733	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03688.hp1 NA20752.hp1 HG03688.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0023 a0001c0001t0004g0024	2	472	0.0042	0	c.-36 others(3): Show c.-36C>A	DEFA5	ENSG00000164816.8	transcript	ENST00000330590.4	protein_coding	1/2	36		chr8	TogoVar
DEFB103B_chr8_7423888_7435348	7430147	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01243.hp1 NA18906.hp2 HG01243.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	2	176	0.0114	0	c.-17 others(3): Show c.-17G>A	DEFB103B	ENSG00000177243.3	transcript	ENST00000318124.3	protein_coding	1/2	17		chr8	TogoVar
DEFB109B_chr8_7307722_7325096	7312730	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02056.hp2 NA19072.hp2 HG02056.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0065 a0001c0001t0003g0003 a0001c0001t0003g0065	2	377	0.0053	0	c.-11 others(4): Show c.-116G>A	DEFB109B	ENSG00000206034.2	transcript	ENST00000382656.2	protein_coding	1/2	116		chr8	TogoVar
DEFB109B_chr8_7307722_7325096	7312746	C C	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	377	0.0027	0	c.-10 others(4): Show c.-100C>A	DEFB109B	ENSG00000206034.2	transcript	ENST00000382656.2	protein_coding	1/2	100		chr8	TogoVar
DEFB109B_chr8_7307722_7325096	7312783	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02572.hp1 others(5): Show HG02145.hp1 HG02280.hp1 HG02572.hp1 HG02897.hp2 HG03098.hp2 HG03486.hp1 HG06807.hp1 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0009 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0009 a0001c0003t0002g0040 a0001c0003t0002g0041	8	377	0.0212	0	c.-63 others(3): Show c.-63G>A	DEFB109B	ENSG00000206034.2	transcript	ENST00000382656.2	protein_coding	1/2	63		chr8	TogoVar
DEFB109B_chr8_7307722_7325096	7312819	A A	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0054 a0001c0001t0010g0054	1	377	0.0027	0	c.-27 others(3): Show c.-27A>G	DEFB109B	ENSG00000206034.2	transcript	ENST00000382656.2	protein_coding	1/2	27		chr8	TogoVar
DEFB110_chr6_50013843_50026994	50021944	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG00639.hp1 others(20): Show HG00140.hp2 HG00558.hp2 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01255.hp1 HG01256.hp2 HG01346.hp2 HG02074.hp2 HG02738.hp1 HG03209.hp2 HG03239.hp1 NA18941.hp2 NA18953.hp2 NA18969.hp1 NA18984.hp2 NA18985.hp2 NA18992.hp2 NA19002.hp1 NA19007.hp2 NA19065.hp2 NA19066.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0002g0033 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0002g0033 a0001c0001t0002g0034	23	386	0.0596	0	c.-9C others(2): Show c.-9C>T	DEFB110	ENSG00000203970.4	transcript	ENST00000371148.3	protein_coding	1/2	9		chr6	TogoVar
DEFB114_chr6_49955249_49969164	49964122	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	400	0.0025	0	c.-17 others(3): Show c.-17C>A	DEFB114	ENSG00000177684.4	transcript	ENST00000322066.4	protein_coding	1/2	17		chr6	TogoVar
DEFB121_chr20_31399845_31411215	31406194	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	372	0.0027	0	c.-42 others(3): Show c.-42C>T	DEFB121	ENSG00000204548.4	transcript	ENST00000376314.3	protein_coding	1/2	42		chr20	TogoVar
DEFB123_chr20_31435632_31455257	31440666	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0130	1	372	0.0027	0	c.-33 others(3): Show c.-33G>A	DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding	1/2	33		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31474653	C C	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp2 others(159): Show HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18981.hp2 NA18998.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19079.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0002 a0001c0001 a0002c0003 a0003c0002	a0001c0001t0002 a0002c0003t0002 a0003c0002t0002 a0001c0001t0002 a0002c0003t0002 a0003c0002t0002	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(119): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0002c0003t0002g0020 a0002c0003t0002g0056 a0003c0002t0002g0117 a0003c0002t0002g0118 a0003c0002t0002g0119	162	362	0.4475	0	c.-52 others(3): Show c.-52G>C	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	1/3	1640		chr20	TogoVar
DEFB127_chr20_152454_164163	157454	G G	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG03041.hp2 others(1): Show HG02145.hp2 HG02258.hp2 HG03041.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0013 a0001c0001t0006g0012 a0001c0001t0005g0013 a0001c0001t0006g0012	4	450	0.0089	0	c.-91 others(3): Show c.-91G>A	DEFB127	ENSG00000088782.5	transcript	ENST00000382388.4	protein_coding	1/2	91		chr20	TogoVar
DEFB127_chr20_152454_164163	157484	G G	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00544.hp2 others(160): Show HG00099.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG03017.hp1 HG03041.hp2 HG03225.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0006 a0002c0002t0002 others(2): Show a0001c0001t0005 a0001c0001t0006 a0002c0002t0002 a0002c0002t0009 a0002c0002t0010	a0001c0001t0005g0013 a0001c0001t0006g0012 a0002c0002t0002g0002 others(9): Show a0001c0001t0005g0013 a0001c0001t0006g0012 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0010 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0009g0002 a0002c0002t0010g0002	163	450	0.3622	0	c.-61 others(3): Show c.-61G>T	DEFB127	ENSG00000088782.5	transcript	ENST00000382388.4	protein_coding	1/2	61		chr20	TogoVar
DEFB127_chr20_152454_164163	157507	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00544.hp2 others(161): Show HG00099.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG03017.hp1 HG03041.hp2 HG03225.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0006 a0002c0002t0002 others(3): Show a0001c0001t0005 a0001c0001t0006 a0002c0002t0002 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010	a0001c0001t0005g0013 a0001c0001t0006g0012 a0002c0002t0002g0002 others(10): Show a0001c0001t0005g0013 a0001c0001t0006g0012 a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0010 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0008g0010 a0002c0002t0009g0002 a0002c0002t0010g0002	164	450	0.3644	0	c.-38 others(3): Show c.-38C>T	DEFB127	ENSG00000088782.5	transcript	ENST00000382388.4	protein_coding	1/2	38		chr20	TogoVar
DEFB127_chr20_152454_164163	157524	C C	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp1 HG02735.hp1 HG00280.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0001 a0001c0001t0007g0018 a0001c0001t0007g0001 a0001c0001t0007g0018	2	450	0.0044	0	c.-21 others(3): Show c.-21C>T	DEFB127	ENSG00000088782.5	transcript	ENST00000382388.4	protein_coding	1/2	21		chr20	TogoVar
DEFB127_chr20_152454_164163	157537	GC GC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(185): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01433.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02257.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03098.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18948.hp2 NA18949.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19054.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0007 a0004c0004t0001 a0001c0001t0001 a0001c0001t0007 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0017 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0007g0001 a0001c0001t0007g0018 a0004c0004t0001g0001	188	450	0.4178	-1	c.-6d others(3): Show c.-6delC	DEFB127	ENSG00000088782.5	transcript	ENST00000382388.4	protein_coding	1/2	6	INFO_REALIGN_3_PRIME	chr20	TogoVar

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