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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Select column to sort.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	chr	external
BMP7_chr20_57163753_57271641	57266268	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00280.hp1 HG01071.hp1 HG03688.hp2 HG00280.hp1 HG01071.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0016 a0001c0003t0016 a0001c0003t0028 a0001c0001t0016 a0001c0003t0016 a0001c0003t0028	a0001c0001t0016g0264 a0001c0003t0016g0265 a0001c0003t0028g0266 a0001c0001t0016g0264 a0001c0003t0016g0265 a0001c0003t0028g0266	3	272	0.0110	c.-14 others(4): Show c.-146C>T	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	1/7	chr20	TogoVar
BMP7_chr20_57163753_57271641	57266485	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00280.hp1 HG00741.hp2 HG01071.hp1 others(32): Show HG00280.hp1 HG00741.hp2 HG01071.hp1 HG01109.hp2 HG01167.hp2 HG01891.hp1 HG01891.hp2 HG02015.hp2 HG02083.hp1 HG02145.hp2 HG02258.hp2 HG02486.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03688.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 others(10): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0003t0016 a0001c0003t0028 a0001c0005t0011	a0001c0001t0004g0236 a0001c0001t0004g0241 a0001c0001t0004g0242 others(32): Show a0001c0001t0004g0236 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0006g0232 a0001c0001t0006g0243 a0001c0001t0006g0247 a0001c0001t0006g0251 a0001c0001t0006g0252 a0001c0001t0006g0258 a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0012g0233 a0001c0001t0012g0240 a0001c0001t0013g0261 a0001c0001t0013g0262 a0001c0001t0014g0237 a0001c0001t0014g0257 a0001c0001t0015g0238 a0001c0001t0015g0239 a0001c0001t0016g0264 a0001c0001t0025g0246 a0001c0001t0026g0248 a0001c0001t0027g0263 a0001c0003t0016g0265 a0001c0003t0028g0266 a0001c0005t0011g0234 a0001c0005t0011g0235	35	272	0.1287	c.-36 others(4): Show c.-363C>T	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	1/7	chr20	TogoVar
BMP8B_chr1_39752182_39793865	39788536	C C	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02258.hp1 HG03130.hp1 HG02258.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0043 a0001c0002t0015g0043	2	430	0.0047	c.-51 others(3): Show c.-51G>T	BMP8B	ENSG00000116985.12	transcript	ENST00000372827.8	protein_coding	1/7	chr1	TogoVar
BMPR1B_chr4_94752955_95163448	94875846	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0100 a0001c0001t0061g0100	1	226	0.0044	c.-16 others(4): Show c.-167A>G	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/13	chr4	TogoVar
BNIP2_chr15_59654146_59694320	59689274	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02809.hp2 HG02965.hp1 HG03486.hp1 HG02809.hp2 HG02965.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045	a0001c0001t0043g0134 a0001c0001t0044g0132 a0001c0001t0045g0133 a0001c0001t0043g0134 a0001c0001t0044g0132 a0001c0001t0045g0133	3	412	0.0073	c.-19 others(4): Show c.-197C>T	BNIP2	ENSG00000140299.14	transcript	ENST00000607373.6	protein_coding	1/10	chr15	TogoVar
BNIP2_chr15_59654146_59694320	59689283	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00408.hp1 NA18941.hp2 NA18943.hp1 others(1): Show HG00408.hp1 NA18941.hp2 NA18943.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0029 a0001c0001t0028 a0001c0001t0029	a0001c0001t0028g0044 a0001c0001t0029g0204 a0001c0001t0029g0205 a0001c0001t0028g0044 a0001c0001t0029g0204 a0001c0001t0029g0205	4	412	0.0097	c.-20 others(4): Show c.-206C>T	BNIP2	ENSG00000140299.14	transcript	ENST00000607373.6	protein_coding	1/10	chr15	TogoVar
BNIP3L_chr8_26378054_26418127	26383114	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0001 a0001c0001t0025g0001	1	406	0.0025	c.-17 others(3): Show c.-17C>T	BNIP3L	ENSG00000104765.16	transcript	ENST00000380629.7	protein_coding	1/6	chr8	TogoVar
BOC_chr3_113206557_113292459	113211954	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0055 a0003c0017t0055	a0003c0017t0055g0247 a0003c0017t0055g0247	1	386	0.0026	c.-23 others(4): Show c.-232C>G	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	1/20	chr3	TogoVar
BOD1_chr5_173602145_173621650	173616558	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0064 a0001c0001t0019g0064	1	416	0.0024	c.-12 others(4): Show c.-122C>T	BOD1	ENSG00000145919.11	transcript	ENST00000311086.9	protein_coding	1/4	chr5	TogoVar
BOLA2B_chr16_30187932_30198666	30193599	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01175.hp2 HG02300.hp1 NA18952.hp1 HG01175.hp2 HG02300.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	3	254	0.0118	c.-4C others(2): Show c.-4C>T	BOLA2B	ENSG00000169627.9	transcript	ENST00000651894.2	protein_coding	1/3	chr16	TogoVar
BOLA2_chr16_29448593_29459351	29454257	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02273.hp2 NA18952.hp2 HG02273.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	174	0.0115	c.-4C others(2): Show c.-4C>T	BOLA2	ENSG00000183336.9	transcript	ENST00000330978.4	protein_coding	1/3	chr16	TogoVar
BOLL_chr2_197721890_197790319	197785181	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00323.hp1 HG00408.hp1 HG01069.hp1 others(60): Show HG00323.hp1 HG00408.hp1 HG01069.hp1 HG01070.hp2 HG01106.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01358.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01943.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02145.hp1 HG02165.hp2 HG02280.hp2 HG02300.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG03130.hp2 HG03139.hp2 HG03579.hp1 HG04115.hp1 HG04199.hp2 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18957.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18973.hp2 NA18974.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18995.hp2 NA18998.hp2 NA19003.hp1 NA19009.hp2 NA19056.hp2 NA19062.hp1 NA19079.hp1 NA19084.hp2 NA19085.hp1 NA19240.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012	a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0013 others(48): Show a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 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 a0001c0001t0008g0048 a0001c0001t0008g0051 a0001c0001t0008g0052 a0001c0001t0009g0018 a0001c0001t0011g0049 a0001c0001t0012g0053	63	328	0.1921	c.-14 others(4): Show c.-141C>T	BOLL	ENSG00000152430.19	transcript	ENST00000392296.9	protein_coding	1/11	chr2	TogoVar
BOLL_chr2_197721890_197790319	197785310	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01261.hp1 HG01884.hp2 HG02559.hp1 others(3): Show HG01261.hp1 HG01884.hp2 HG02559.hp1 HG03209.hp1 HG03486.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0015 a0002c0002t0007 a0002c0002t0014 a0001c0001t0015 a0002c0002t0007 a0002c0002t0014	a0001c0001t0015g0265 a0002c0002t0007g0034 a0002c0002t0007g0262 others(2): Show a0001c0001t0015g0265 a0002c0002t0007g0034 a0002c0002t0007g0262 a0002c0002t0007g0263 a0002c0002t0014g0264	6	328	0.0183	c.-27 others(4): Show c.-270C>T	BOLL	ENSG00000152430.19	transcript	ENST00000392296.9	protein_coding	1/11	chr2	TogoVar
BPHL_chr6_3113711_3158578	3118718	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01081.hp1 HG01099.hp2 HG01192.hp2 others(23): Show HG01081.hp1 HG01099.hp2 HG01192.hp2 HG01243.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02280.hp1 HG02300.hp2 HG02559.hp2 HG02647.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG03130.hp2 HG03139.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 NA18946.hp1 NA18952.hp1 NA18956.hp1 NA18965.hp1 NA18980.hp2 NA18986.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0002t0014 a0001c0004t0006 others(1): Show a0001c0002t0003 a0001c0002t0014 a0001c0004t0006 a0001c0004t0015	a0001c0002t0003g0009 a0001c0002t0003g0040 a0001c0002t0003g0247 others(16): Show a0001c0002t0003g0009 a0001c0002t0003g0040 a0001c0002t0003g0247 a0001c0002t0003g0248 a0001c0002t0003g0249 a0001c0002t0003g0251 a0001c0002t0003g0252 a0001c0002t0003g0253 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0014g0250 a0001c0004t0006g0016 a0001c0004t0006g0041 a0001c0004t0006g0244 a0001c0004t0006g0246 a0001c0004t0015g0245	26	350	0.0743	c.-23 others(3): Show c.-23C>T	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	1/7	chr6	TogoVar
BPNT2_chr8_56952931_56998867	56993710	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00323.hp1 HG00408.hp1 HG00423.hp1 others(58): Show HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00597.hp1 HG00673.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01255.hp2 HG01433.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp2 HG02258.hp1 HG02451.hp2 HG02523.hp1 HG02615.hp1 HG02622.hp2 HG02723.hp2 HG02735.hp2 HG02976.hp2 HG03017.hp1 HG03225.hp2 HG03654.hp2 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG04228.hp2 NA18747.hp1 NA18939.hp1 NA18945.hp1 NA18949.hp1 NA18950.hp1 NA18955.hp1 NA18956.hp2 NA18969.hp2 NA18972.hp2 NA18979.hp2 NA18980.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18991.hp2 NA18997.hp1 NA19002.hp1 NA19006.hp1 NA19009.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19081.hp2 NA19083.hp2 NA20129.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0005 a0005c0004 a0001c0001 a0004c0005 a0005c0004	a0001c0001t0002 a0001c0001t0013 a0001c0001t0016 others(4): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0016 a0001c0001t0034 a0001c0001t0035 a0004c0005t0002 a0005c0004t0013	a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0014 others(44): Show a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0013g0204 a0001c0001t0013g0211 a0001c0001t0016g0190 a0001c0001t0016g0198 a0001c0001t0034g0195 a0001c0001t0035g0197 a0004c0005t0002g0199 a0005c0004t0013g0189	61	356	0.1714	c.-12 others(4): Show c.-125C>T	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding	1/5	chr8	TogoVar
BRAF_chr7_140714337_140929929	140924708	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00408.hp1 NA19077.hp2 HG00408.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0031 a0001c0001t0030 a0001c0001t0031	a0001c0001t0030g0181 a0001c0001t0031g0180 a0001c0001t0030g0181 a0001c0001t0031g0180	2	190	0.0105	c.-5A others(2): Show c.-5A>G	BRAF	ENSG00000157764.14	transcript	ENST00000644969.2	protein_coding	1/20	chr7	TogoVar
BRAF_chr7_140725665_140929929	140924708	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00408.hp1 NA19077.hp2 HG00408.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0059 a0001c0001t0058 a0001c0001t0059	a0001c0001t0058g0185 a0001c0001t0059g0186 a0001c0001t0058g0185 a0001c0001t0059g0186	2	196	0.0102	c.-5A others(2): Show c.-5A>G	BRAF	ENSG00000157764.14	transcript	ENST00000646891.2	protein_coding	1/18	chr7	TogoVar
BRCA2_chr13_32310508_32405268	32316450	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02965.hp2 HG03579.hp2 NA20300.hp1 HG02965.hp2 HG03579.hp2 NA20300.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0015 a0010c0014t0015	a0010c0014t0015g0017 a0010c0014t0015g0286 a0010c0014t0015g0017 a0010c0014t0015g0286	3	398	0.0075	c.-11 others(3): Show c.-11C>T	BRCA2	ENSG00000139618.18	transcript	ENST00000380152.8	protein_coding	2/27	chr13	TogoVar
BRD2_chr6_32963594_32986501	32968686	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0072 a0001c0005t0072	a0001c0005t0072g0122 a0001c0005t0072g0122	1	469	0.0021	c.-16 others(5): Show c.-1675A>G	BRD2	ENSG00000204256.14	transcript	ENST00000374825.9	protein_coding	1/13	chr6	TogoVar
BRD2_chr6_32963594_32986501	32968778	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01167.hp1 HG01975.hp1 HG02148.hp1 HG01167.hp1 HG01975.hp1 HG02148.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0017 a0001c0002t0027g0050 a0001c0002t0027g0017 a0001c0002t0027g0050	3	469	0.0064	c.-15 others(5): Show c.-1583C>T	BRD2	ENSG00000204256.14	transcript	ENST00000374825.9	protein_coding	1/13	chr6	TogoVar
BRD2_chr6_32963594_32986501	32972006	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18975.hp1 NA18979.hp2 NA19003.hp1 others(6): Show NA18975.hp1 NA18979.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19062.hp2 NA19076.hp1 NA19078.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0065 a0001c0001t0066 a0001c0001t0015 a0001c0001t0065 a0001c0001t0066	a0001c0001t0015g0001 a0001c0001t0015g0033 a0001c0001t0065g0001 others(1): Show a0001c0001t0015g0001 a0001c0001t0015g0033 a0001c0001t0065g0001 a0001c0001t0066g0001	9	469	0.0192	c.-89 others(4): Show c.-893C>T	BRD2	ENSG00000204256.14	transcript	ENST00000374825.9	protein_coding	2/13	chr6	TogoVar
BRD2_chr6_32963594_32986501	32972008	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01891.hp2 HG02717.hp1 HG01891.hp2 HG02717.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0022 a0001c0001 a0012c0022	a0001c0001t0048 a0012c0022t0049 a0001c0001t0048 a0012c0022t0049	a0001c0001t0048g0065 a0012c0022t0049g0066 a0001c0001t0048g0065 a0012c0022t0049g0066	2	469	0.0043	c.-89 others(4): Show c.-891T>C	BRD2	ENSG00000204256.14	transcript	ENST00000374825.9	protein_coding	2/13	chr6	TogoVar
BRD2_chr6_32963594_32986501	32972260	A A	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0064 a0001c0005t0064	a0001c0005t0064g0013 a0001c0005t0064g0013	1	469	0.0021	c.-63 others(4): Show c.-639A>T	BRD2	ENSG00000204256.14	transcript	ENST00000374825.9	protein_coding	2/13	chr6	TogoVar
BRD2_chr6_32963594_32986501	32972486	T T	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02040.hp2 HG02523.hp2 NA18960.hp2 others(2): Show HG02040.hp2 HG02523.hp2 NA18960.hp2 NA18974.hp1 NA18999.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0038 a0001c0004t0039 a0001c0004t0023 a0001c0004t0038 a0001c0004t0039	a0001c0004t0023g0004 a0001c0004t0038g0004 a0001c0004t0039g0004 a0001c0004t0023g0004 a0001c0004t0038g0004 a0001c0004t0039g0004	5	469	0.0107	c.-41 others(4): Show c.-413T>G	BRD2	ENSG00000204256.14	transcript	ENST00000374825.9	protein_coding	2/13	chr6	TogoVar
BRD2_chr6_32963594_32986501	32972844	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00423.hp2 HG00621.hp2 HG00733.hp1 others(62): Show HG00423.hp2 HG00621.hp2 HG00733.hp1 HG02027.hp1 HG02132.hp1 HG02145.hp2 HG02155.hp1 HG02451.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02922.hp2 HG02976.hp2 HG03130.hp1 HG03195.hp1 HG03516.hp1 HG03831.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18944.hp2 NA18949.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp2 NA18983.hp1 NA18988.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19011.hp1 NA19043.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19072.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19087.hp1 NA19240.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 others(10): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0001c0001t0024 a0001c0001t0029 a0001c0001t0046 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0065 a0001c0001t0066 a0001c0023t0003	a0001c0001t0003g0001 a0001c0001t0003g0016 a0001c0001t0003g0046 others(18): Show a0001c0001t0003g0001 a0001c0001t0003g0016 a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0001t0003g0077 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0008g0001 a0001c0001t0008g0047 a0001c0001t0015g0001 a0001c0001t0015g0033 a0001c0001t0024g0016 a0001c0001t0029g0001 a0001c0001t0046g0001 a0001c0001t0058g0001 a0001c0001t0059g0001 a0001c0001t0060g0076 a0001c0001t0061g0001 a0001c0001t0065g0001 a0001c0001t0066g0001 a0001c0023t0003g0001	65	469	0.1386	c.-55 others(3): Show c.-55C>T	BRD2	ENSG00000204256.14	transcript	ENST00000374825.9	protein_coding	2/13	chr6	TogoVar
BRD3OS_chr9_134020481_134036587	134025489	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0002 a0001c0001t0086g0002	1	334	0.0030	c.-83 others(4): Show c.-834C>T	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding	1/3	chr9	TogoVar
BRD3_chr9_134025305_134073026	134053483	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18951.hp1 NA18972.hp2 NA18951.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0091 a0001c0001t0090 a0001c0001t0091	a0001c0001t0090g0193 a0001c0001t0091g0192 a0001c0001t0090g0193 a0001c0001t0091g0192	2	334	0.0060	c.-6C others(2): Show c.-6C>T	BRD3	ENSG00000169925.17	transcript	ENST00000303407.12	protein_coding	2/12	chr9	TogoVar
BRINP2_chr1_177165958_177287422	177171292	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00741.hp1 HG01071.hp1 HG01243.hp2 others(5): Show HG00741.hp1 HG01071.hp1 HG01243.hp2 HG01257.hp2 HG01358.hp2 HG01934.hp2 HG01993.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0113 a0001c0001t0005g0114 others(5): Show a0001c0001t0005g0009 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0005g0115 a0001c0001t0005g0135 a0001c0001t0005g0136 a0001c0001t0005g0137 a0001c0001t0005g0141	8	252	0.0318	c.-51 others(4): Show c.-517C>G	BRINP2	ENSG00000198797.7	transcript	ENST00000361539.5	protein_coding	1/8	chr1	TogoVar
BRME1_chr19_13877348_13911117	13905982	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0204 a0002c0002t0015g0204	1	322	0.0031	c.-28 others(4): Show c.-289C>T	BRME1	ENSG00000132016.12	transcript	ENST00000586783.6	protein_coding	1/9	chr19	TogoVar
BRMS1_chr11_66332339_66350104	66344983	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18969.hp1 NA19005.hp2 NA18969.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	2	424	0.0047	c.-19 others(3): Show c.-19C>G	BRMS1	ENSG00000174744.14	transcript	ENST00000359957.8	protein_coding	1/10	chr11	TogoVar
BROX_chr1_222707564_222740187	222712777	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(279): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0002t0005 a0001c0002t0020 a0001c0002t0021 a0001c0002t0029 a0001c0004t0013 a0001c0005t0004 a0002c0003t0007 a0002c0003t0015 a0003c0007t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(123): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0054 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0003g0005 a0001c0001t0003g0009 a0001c0001t0003g0016 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0106 a0001c0001t0003g0123 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0024 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0047 a0001c0001t0004g0107 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0005g0003 a0001c0001t0005g0008 a0001c0001t0005g0052 a0001c0001t0006g0001 a0001c0001t0006g0010 a0001c0001t0006g0017 a0001c0001t0006g0019 a0001c0001t0006g0021 a0001c0001t0006g0035 a0001c0001t0006g0057 a0001c0001t0006g0062 a0001c0001t0006g0098 a0001c0001t0007g0022 a0001c0001t0007g0087 a0001c0001t0007g0099 a0001c0001t0007g0100 a0001c0001t0007g0118 a0001c0001t0007g0119 a0001c0001t0009g0001 a0001c0001t0009g0034 a0001c0001t0009g0053 a0001c0001t0009g0071 a0001c0001t0009g0108 a0001c0001t0010g0023 a0001c0001t0010g0101 a0001c0001t0010g0120 a0001c0001t0010g0121 a0001c0001t0010g0122 a0001c0001t0011g0003 a0001c0001t0011g0089 a0001c0001t0012g0102 a0001c0001t0012g0103 a0001c0001t0012g0105 a0001c0001t0012g0136 a0001c0001t0014g0005 a0001c0001t0014g0016 a0001c0001t0018g0042 a0001c0001t0019g0040 a0001c0001t0020g0008 a0001c0001t0024g0037 a0001c0001t0025g0058 a0001c0001t0026g0023 a0001c0001t0027g0001 a0001c0001t0028g0003 a0001c0001t0030g0003 a0001c0002t0005g0003 a0001c0002t0005g0013 a0001c0002t0005g0021 a0001c0002t0005g0070 a0001c0002t0005g0077 a0001c0002t0005g0081 a0001c0002t0005g0082 a0001c0002t0005g0097 a0001c0002t0020g0013 a0001c0002t0021g0013 a0001c0002t0029g0003 a0001c0004t0013g0132 a0001c0004t0013g0133 a0001c0004t0013g0134 a0001c0005t0004g0007 a0001c0005t0004g0044 a0002c0003t0007g0015 a0002c0003t0007g0104 a0002c0003t0015g0015 a0003c0007t0004g0007	282	386	0.7306	c.-18 others(4): Show c.-182A>G	BROX	ENSG00000162819.12	transcript	ENST00000340934.10	protein_coding	1/13	chr1	TogoVar
BRPF1_chr3_9726735_9753015	9731819	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0027 a0001c0001t0009g0027	1	426	0.0024	c.-33 others(4): Show c.-330C>T	BRPF1	ENSG00000156983.17	transcript	ENST00000383829.7	protein_coding	1/14	chr3	TogoVar
BRSK1_chr19_55278997_55317562	55284125	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0262 a0001c0001t0029g0262	1	338	0.0030	c.-31 others(4): Show c.-318C>T	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	1/19	chr19	TogoVar
BRSK2_chr11_1384934_1467689	1390271	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(135): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18939.hp1 NA18944.hp2 NA18945.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19060.hp2 NA19064.hp2 NA19067.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19088.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0002c0007 a0002c0008 a0006c0012	a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 others(38): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0021 a0001c0001t0024 a0001c0001t0032 a0001c0001t0036 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0074 a0001c0001t0075 a0001c0001t0078 a0001c0003t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0010 a0002c0002t0012 a0002c0002t0016 a0002c0002t0017 a0002c0002t0022 a0002c0002t0023 a0002c0002t0033 a0002c0002t0035 a0002c0002t0038 a0002c0002t0039 a0002c0002t0040 a0002c0002t0066 a0002c0002t0069 a0002c0002t0071 a0002c0002t0072 a0002c0002t0073 a0002c0005t0005 a0002c0007t0010 a0002c0008t0005 a0006c0012t0037	a0001c0001t0003g0002 a0001c0001t0003g0045 a0001c0001t0003g0193 others(130): Show a0001c0001t0003g0002 a0001c0001t0003g0045 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0222 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0241 a0001c0001t0003g0263 a0001c0001t0003g0265 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0280 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0006g0197 a0001c0001t0006g0214 a0001c0001t0006g0215 a0001c0001t0006g0218 a0001c0001t0006g0225 a0001c0001t0006g0226 a0001c0001t0006g0229 a0001c0001t0006g0247 a0001c0001t0006g0248 a0001c0001t0006g0251 a0001c0001t0006g0282 a0001c0001t0011g0295 a0001c0001t0011g0303 a0001c0001t0011g0307 a0001c0001t0011g0310 a0001c0001t0011g0352 a0001c0001t0021g0206 a0001c0001t0021g0221 a0001c0001t0021g0242 a0001c0001t0024g0292 a0001c0001t0024g0299 a0001c0001t0032g0195 a0001c0001t0032g0209 a0001c0001t0036g0300 a0001c0001t0061g0266 a0001c0001t0062g0257 a0001c0001t0063g0253 a0001c0001t0064g0261 a0001c0001t0065g0256 a0001c0001t0067g0252 a0001c0001t0068g0243 a0001c0001t0070g0210 a0001c0001t0074g0213 a0001c0001t0075g0202 a0001c0001t0078g0205 a0001c0003t0003g0291 a0002c0002t0005g0005 a0002c0002t0005g0198 a0002c0002t0005g0211 a0002c0002t0005g0212 a0002c0002t0005g0216 a0002c0002t0005g0224 a0002c0002t0005g0250 a0002c0002t0005g0258 a0002c0002t0005g0259 a0002c0002t0005g0260 a0002c0002t0005g0262 a0002c0002t0005g0264 a0002c0002t0005g0269 a0002c0002t0005g0274 a0002c0002t0005g0276 a0002c0002t0005g0277 a0002c0002t0005g0281 a0002c0002t0005g0283 a0002c0002t0007g0294 a0002c0002t0007g0302 a0002c0002t0007g0304 a0002c0002t0007g0306 a0002c0002t0007g0308 a0002c0002t0007g0309 a0002c0002t0007g0345 a0002c0002t0007g0346 a0002c0002t0007g0350 a0002c0002t0007g0351 a0002c0002t0010g0004 a0002c0002t0010g0233 a0002c0002t0010g0246 a0002c0002t0010g0275 a0002c0002t0012g0006 a0002c0002t0012g0347 a0002c0002t0012g0348 a0002c0002t0012g0349 a0002c0002t0016g0207 a0002c0002t0016g0208 a0002c0002t0016g0240 a0002c0002t0016g0284 a0002c0002t0017g0301 a0002c0002t0017g0305 a0002c0002t0017g0353 a0002c0002t0022g0003 a0002c0002t0022g0204 a0002c0002t0023g0223 a0002c0002t0023g0254 a0002c0002t0023g0255 a0002c0002t0033g0279 a0002c0002t0033g0286 a0002c0002t0035g0296 a0002c0002t0038g0297 a0002c0002t0039g0344 a0002c0002t0040g0298 a0002c0002t0066g0285 a0002c0002t0069g0231 a0002c0002t0071g0249 a0002c0002t0072g0273 a0002c0002t0073g0217 a0002c0005t0005g0289 a0002c0007t0010g0244 a0002c0007t0010g0245 a0002c0008t0005g0278 a0006c0012t0037g0293	138	360	0.3833	c.-14 others(3): Show c.-14C>T	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/20	chr11	TogoVar
BSG_chr19_567596_588493	572628	A A	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00544.hp2 HG02300.hp2 NA18939.hp1 HG00544.hp2 HG02300.hp2 NA18939.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0003 a0001c0003t0008g0064 a0001c0003t0008g0003 a0001c0003t0008g0064	3	306	0.0098	c.-7A others(2): Show c.-7A>G	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding	1/9	chr19	TogoVar
BSND_chr1_54993933_55022172	54999117	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(223): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp2 NA19072.hp2 NA19074.hp2 NA19082.hp1 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(127): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0001c0001t0160 a0001c0001t0161 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0165 a0001c0001t0166 a0001c0001t0167 a0001c0001t0168 a0001c0001t0169 a0001c0001t0170 a0001c0001t0171 a0001c0001t0172 a0001c0001t0185 a0001c0001t0189 a0001c0001t0268 a0001c0003t0027 a0001c0003t0028 a0001c0003t0059 a0001c0003t0173 a0001c0003t0174 a0001c0003t0175 a0001c0003t0176 a0001c0003t0177 a0001c0003t0178 a0001c0003t0179 a0001c0003t0180 a0001c0003t0181 a0001c0003t0182 a0001c0003t0183 a0001c0003t0184 a0001c0003t0186 a0001c0003t0187 a0001c0003t0188 a0003c0005t0052	a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0017 others(166): Show a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0017 a0001c0001t0002g0062 a0001c0001t0002g0101 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0149 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0146 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0001t0005g0040 a0001c0001t0006g0001 a0001c0001t0006g0002 a0001c0001t0006g0058 a0001c0001t0006g0143 a0001c0001t0012g0001 a0001c0001t0012g0007 a0001c0001t0013g0026 a0001c0001t0013g0041 a0001c0001t0014g0026 a0001c0001t0014g0040 a0001c0001t0014g0057 a0001c0001t0015g0001 a0001c0001t0015g0142 a0001c0001t0016g0056 a0001c0001t0016g0151 a0001c0001t0016g0153 a0001c0001t0021g0033 a0001c0001t0021g0105 a0001c0001t0022g0001 a0001c0001t0022g0007 a0001c0001t0022g0131 a0001c0001t0023g0002 a0001c0001t0023g0137 a0001c0001t0024g0017 a0001c0001t0024g0057 a0001c0001t0024g0138 a0001c0001t0025g0028 a0001c0001t0026g0011 a0001c0001t0029g0032 a0001c0001t0029g0096 a0001c0001t0038g0014 a0001c0001t0039g0038 a0001c0001t0039g0130 a0001c0001t0040g0001 a0001c0001t0041g0001 a0001c0001t0042g0001 a0001c0001t0042g0007 a0001c0001t0043g0001 a0001c0001t0044g0001 a0001c0001t0045g0039 a0001c0001t0046g0001 a0001c0001t0047g0001 a0001c0001t0047g0002 a0001c0001t0048g0025 a0001c0001t0048g0053 a0001c0001t0049g0001 a0001c0001t0050g0002 a0001c0001t0050g0053 a0001c0001t0051g0001 a0001c0001t0053g0002 a0001c0001t0053g0103 a0001c0001t0054g0060 a0001c0001t0055g0011 a0001c0001t0056g0014 a0001c0001t0057g0037 a0001c0001t0058g0042 a0001c0001t0101g0002 a0001c0001t0102g0033 a0001c0001t0103g0014 a0001c0001t0104g0123 a0001c0001t0105g0002 a0001c0001t0106g0001 a0001c0001t0107g0062 a0001c0001t0108g0081 a0001c0001t0109g0001 a0001c0001t0110g0025 a0001c0001t0111g0025 a0001c0001t0112g0140 a0001c0001t0113g0047 a0001c0001t0114g0007 a0001c0001t0115g0017 a0001c0001t0116g0001 a0001c0001t0117g0026 a0001c0001t0118g0145 a0001c0001t0119g0017 a0001c0001t0120g0039 a0001c0001t0121g0007 a0001c0001t0122g0038 a0001c0001t0123g0001 a0001c0001t0124g0001 a0001c0001t0125g0001 a0001c0001t0126g0002 a0001c0001t0127g0002 a0001c0001t0128g0002 a0001c0001t0129g0002 a0001c0001t0130g0002 a0001c0001t0131g0002 a0001c0001t0132g0139 a0001c0001t0133g0002 a0001c0001t0134g0001 a0001c0001t0135g0002 a0001c0001t0136g0001 a0001c0001t0137g0001 a0001c0001t0138g0129 a0001c0001t0139g0001 a0001c0001t0140g0038 a0001c0001t0141g0046 a0001c0001t0142g0002 a0001c0001t0143g0001 a0001c0001t0144g0001 a0001c0001t0145g0025 a0001c0001t0146g0100 a0001c0001t0147g0157 a0001c0001t0148g0108 a0001c0001t0149g0132 a0001c0001t0150g0047 a0001c0001t0151g0141 a0001c0001t0152g0001 a0001c0001t0153g0001 a0001c0001t0154g0080 a0001c0001t0155g0144 a0001c0001t0156g0032 a0001c0001t0157g0113 a0001c0001t0158g0152 a0001c0001t0159g0154 a0001c0001t0160g0133 a0001c0001t0161g0011 a0001c0001t0162g0135 a0001c0001t0163g0011 a0001c0001t0164g0148 a0001c0001t0165g0150 a0001c0001t0166g0136 a0001c0001t0167g0037 a0001c0001t0168g0061 a0001c0001t0169g0061 a0001c0001t0170g0102 a0001c0001t0171g0042 a0001c0001t0172g0128 a0001c0001t0185g0158 a0001c0001t0189g0119 a0001c0001t0268g0070 a0001c0003t0027g0018 a0001c0003t0027g0155 a0001c0003t0028g0024 a0001c0003t0028g0126 a0001c0003t0028g0127 a0001c0003t0059g0024 a0001c0003t0173g0059 a0001c0003t0174g0055 a0001c0003t0175g0002 a0001c0003t0176g0055 a0001c0003t0177g0147 a0001c0003t0178g0026 a0001c0003t0179g0018 a0001c0003t0180g0018 a0001c0003t0181g0104 a0001c0003t0182g0099 a0001c0003t0183g0134 a0001c0003t0184g0059 a0001c0003t0186g0024 a0001c0003t0187g0018 a0001c0003t0188g0002 a0003c0005t0052g0017 a0003c0005t0052g0046	226	448	0.5045	c.-70 others(3): Show c.-70C>G	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding	1/4	chr1	TogoVar
BSX_chr11_122972570_122986834	122981685	C C	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19055.hp1 NA19067.hp1 NA19055.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0034 a0001c0001t0003g0035	2	422	0.0047	c.-14 others(3): Show c.-14G>A	BSX	ENSG00000188909.5	transcript	ENST00000343035.3	protein_coding	1/3	chr11	TogoVar
BTBD10_chr11_13383008_13468222	13463103	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0295 a0001c0001t0007g0295	1	356	0.0028	c.-69 others(3): Show c.-69A>G	BTBD10	ENSG00000148925.11	transcript	ENST00000278174.10	protein_coding	1/9	chr11	TogoVar
BTBD1_chr15_83011423_83072252	83067174	C C	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(115): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01978.hp2 HG02056.hp2 HG02083.hp2 HG02145.hp1 HG02257.hp1 HG02273.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG06807.hp2 NA18906.hp2 NA18940.hp2 NA18943.hp2 NA18952.hp2 NA18956.hp1 NA18957.hp2 NA18963.hp2 NA18965.hp1 NA18967.hp2 NA18985.hp2 NA18994.hp1 NA19000.hp2 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0002c0002 a0005c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0004t0002 a0001c0007t0014 a0002c0002t0003 a0005c0008t0004	a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 others(115): Show a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0115 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0005g0003 a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0071 a0001c0001t0005g0072 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0093 a0001c0001t0006g0078 a0001c0001t0006g0079 a0001c0001t0006g0080 a0001c0001t0006g0087 a0001c0001t0006g0095 a0001c0001t0006g0096 a0001c0001t0006g0102 a0001c0001t0006g0104 a0001c0001t0008g0083 a0001c0001t0008g0090 a0001c0001t0008g0100 a0001c0001t0009g0026 a0001c0001t0009g0027 a0001c0001t0009g0028 a0001c0001t0015g0075 a0001c0004t0002g0061 a0001c0007t0014g0107 a0002c0002t0003g0117 a0002c0002t0003g0118 a0002c0002t0003g0119 a0002c0002t0003g0120 a0005c0008t0004g0116	118	328	0.3598	c.-23 others(3): Show c.-23G>C	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	1/8	chr15	TogoVar
BTBD8_chr1_92075345_92189723	92080411	G G	T T	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0149 a0002c0002t0005g0149	1	158	0.0063	c.-16 others(4): Show c.-161G>T	BTBD8	ENSG00000189195.15	transcript	ENST00000636805.2	protein_coding	1/18	chr1	TogoVar
BTC_chr4_74739759_74799523	74794512	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0317 a0001c0001t0025g0317	1	360	0.0028	c.-18 others(4): Show c.-187C>T	BTC	ENSG00000174808.12	transcript	ENST00000395743.8	protein_coding	1/6	chr4	TogoVar
BTG1_chr12_92135278_92150846	92145602	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(158): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp1 NA18990.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19059.hp2 NA19060.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19076.hp1 NA19077.hp1 NA19078.hp2 NA19080.hp2 NA19084.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0003 a0001c0001 a0001c0004 a0003c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(19): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0029 a0001c0001t0030 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0004t0018 a0003c0003t0008	a0001c0001t0003g0003 a0001c0001t0003g0052 a0001c0001t0003g0053 others(23): Show a0001c0001t0003g0003 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0004g0005 a0001c0001t0006g0008 a0001c0001t0006g0019 a0001c0001t0008g0010 a0001c0001t0008g0054 a0001c0001t0014g0016 a0001c0001t0015g0017 a0001c0001t0017g0018 a0001c0001t0018g0023 a0001c0001t0019g0022 a0001c0001t0021g0024 a0001c0001t0029g0032 a0001c0001t0030g0033 a0001c0001t0036g0043 a0001c0001t0037g0044 a0001c0001t0038g0045 a0001c0001t0039g0046 a0001c0001t0040g0047 a0001c0001t0041g0048 a0001c0001t0042g0049 a0001c0001t0043g0050 a0001c0004t0018g0051 a0003c0003t0008g0042	161	464	0.3470	c.-67 others(3): Show c.-67C>T	BTG1	ENSG00000133639.6	transcript	ENST00000256015.5	protein_coding	1/2	chr12	TogoVar
BTG1_chr12_92135278_92150846	92145820	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG04184.hp1 HG04199.hp2 HG04184.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0036 a0001c0001t0031g0036	2	464	0.0043	c.-28 others(4): Show c.-285A>G	BTG1	ENSG00000133639.6	transcript	ENST00000256015.5	protein_coding	1/2	chr12	TogoVar
BTG3_chr21_17588653_17617901	17612722	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0129 a0001c0001t0009g0129	1	402	0.0025	c.-32 others(3): Show c.-32C>T	BTG3	ENSG00000154640.15	transcript	ENST00000348354.7	protein_coding	1/5	chr21	TogoVar
BTG3_chr21_17588653_17617901	17612898	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG01109.hp1 HG02451.hp1 HG03195.hp2 HG01109.hp1 HG02451.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	3	402	0.0075	c.-20 others(4): Show c.-208C>G	BTG3	ENSG00000154640.15	transcript	ENST00000348354.7	protein_coding	1/5	chr21	TogoVar
BTN3A1_chr6_26397275_26420208	26402316	T T	G G	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0001 a0001c0001t0011g0001	3	394	0.0076	c.-28 others(4): Show c.-289T>G	BTN3A1	ENSG00000026950.17	transcript	ENST00000289361.11	protein_coding	1/10	chr6	TogoVar
BTN3A1_chr6_26397275_26420208	26402386	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG00733.hp1 HG00738.hp2 HG00741.hp1 others(42): Show HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01346.hp2 HG01358.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02080.hp2 HG02083.hp2 HG02148.hp1 HG02257.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 NA19030.hp2 NA20752.hp2 NA21309.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0006	a0002c0004 a0003c0005 a0005c0006 others(1): Show a0002c0004 a0003c0005 a0005c0006 a0006c0008	a0002c0004t0004 a0002c0004t0021 a0003c0005t0020 others(2): Show a0002c0004t0004 a0002c0004t0021 a0003c0005t0020 a0005c0006t0014 a0006c0008t0012	a0002c0004t0004g0007 a0002c0004t0004g0012 a0002c0004t0004g0013 others(16): Show a0002c0004t0004g0007 a0002c0004t0004g0012 a0002c0004t0004g0013 a0002c0004t0004g0018 a0002c0004t0004g0025 a0002c0004t0004g0026 a0002c0004t0004g0031 a0002c0004t0004g0055 a0002c0004t0004g0056 a0002c0004t0004g0058 a0002c0004t0004g0060 a0002c0004t0004g0061 a0002c0004t0004g0063 a0002c0004t0021g0013 a0003c0005t0020g0012 a0005c0006t0014g0032 a0006c0008t0012g0057 a0006c0008t0012g0059 a0006c0008t0012g0062	45	394	0.1142	c.-21 others(4): Show c.-219G>C	BTN3A1	ENSG00000026950.17	transcript	ENST00000289361.11	protein_coding	1/10	chr6	TogoVar
BTN3A1_chr6_26397275_26420208	26405457	T T	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	HG02074.hp1 NA18747.hp1 NA18954.hp2 others(8): Show HG02074.hp1 NA18747.hp1 NA18954.hp2 NA18960.hp2 NA18961.hp2 NA18970.hp2 NA18982.hp2 NA18985.hp2 NA18998.hp1 NA19067.hp2 NA19077.hp2	a0001 a0008 a0011 a0001 a0008 a0011	a0001c0003 a0008c0010 a0011c0012 a0001c0003 a0008c0010 a0011c0012	a0001c0003t0006 a0008c0010t0006 a0011c0012t0006 a0001c0003t0006 a0008c0010t0006 a0011c0012t0006	a0001c0003t0006g0005 a0001c0003t0006g0043 a0001c0003t0006g0044 others(2): Show a0001c0003t0006g0005 a0001c0003t0006g0043 a0001c0003t0006g0044 a0008c0010t0006g0005 a0011c0012t0006g0005	11	394	0.0279	c.-10 others(4): Show c.-107T>C	BTN3A1	ENSG00000026950.17	transcript	ENST00000289361.11	protein_coding	2/10	chr6	TogoVar
BUB3_chr10_123149402_123175467	123154445	G G	C C	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0059 a0001c0001t0031g0059	1	418	0.0024	c.-41 others(3): Show c.-41G>C	BUB3	ENSG00000154473.18	transcript	ENST00000368865.9	protein_coding	1/8	chr10	TogoVar
BUD13_chr11_116743173_116777987	116772974	G G	A A	5_prime_UTR_premature_start_codon_gain_variant 5_prime_UTR_premature_start_codon_gain_variant	LOW	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0276 a0001c0001t0008g0276	1	440	0.0023	c.-10 others(3): Show c.-10C>T	BUD13	ENSG00000137656.12	transcript	ENST00000260210.5	protein_coding	1/10	chr11	TogoVar

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