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
BICD1_chr12_32101847_32388633	32384586	C C	CCTTCTTC others(8): Show CCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03834.hp2 HG03831.hp2 HG03834.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0053 a0001c0003t0054 a0001c0003t0053 a0001c0003t0054	a0001c0003t0053g0285 a0001c0003t0054g0079 a0001c0003t0053g0285 a0001c0003t0054g0079	2	290	0.0069	15	c.69 others(26): Show c.6959_*6960insCTTCTTCTTCTTCTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		954		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCCT others(8): Show GTCTTCCTCCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02895.hp2 HG01891.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0019 a0001c0001t0016 a0001c0001t0019	a0001c0001t0016g0037 a0001c0001t0019g0191 a0001c0001t0016g0037 a0001c0001t0019g0191	2	290	0.0069	15	c.69 others(26): Show c.6961_*6962insTCTTCCTCCTCCTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCCT others(8): Show GTCTTCCTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0271 a0001c0005t0012g0271	1	290	0.0035	15	c.69 others(26): Show c.6961_*6962insTCTTCCTCTTCTTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCTT others(8): Show GTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01517.hp1 HG02071.hp2 others(8): Show HG00408.hp2 HG01517.hp1 HG02071.hp2 HG02922.hp1 HG03209.hp2 HG04199.hp1 HG06807.hp1 NA18612.hp1 NA18980.hp1 NA19010.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0010 a0001c0001 a0001c0002 a0002c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0022 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0022 a0001c0001t0023 a0001c0001t0056 a0001c0001t0061 a0001c0002t0001 a0001c0002t0004 a0001c0002t0051 a0002c0010t0008	a0001c0001t0001g0264 a0001c0001t0004g0170 a0001c0001t0022g0101 others(8): Show a0001c0001t0001g0264 a0001c0001t0004g0170 a0001c0001t0022g0101 a0001c0001t0023g0096 a0001c0001t0056g0275 a0001c0001t0061g0226 a0001c0002t0001g0069 a0001c0002t0001g0077 a0001c0002t0004g0106 a0001c0002t0051g0266 a0002c0010t0008g0256	11	290	0.0379	15	c.69 others(26): Show c.6961_*6962insTCTTCTTCTTCTTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384593	C C	CTTCTTCT others(8): Show CTTCTTCTTCTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0124 a0001c0002t0005g0124	1	290	0.0035	15	c.69 others(26): Show c.6966_*6967insTTCTTCTTCTTCTTA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		961		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384602	C C	CTTCTTCT others(8): Show CTTCTTCTTCTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0151 a0001c0002t0005g0151	1	290	0.0035	15	c.69 others(26): Show c.6975_*6976insTTCTTCTTCTTCTTA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		970		chr12	TogoVar
BICD2_chr9_92706363_92769833	92757312	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18995.hp1 HG02083.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0005 a0001c0001t0017	a0001c0001t0005g0190 a0001c0001t0017g0197 a0001c0001t0005g0190 a0001c0001t0017g0197	2	360	0.0056	15	c.240 others(32): Show c.240+7178_240+7192dupTTTTTTTTTTTTTTT	BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding	1/6			chr9	TogoVar
BICD2_chr9_92706363_92769833	92764801	A A	AGCCGCCG others(8): Show AGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01261.hp2 others(1): Show HG01069.hp2 HG01071.hp2 HG01261.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0025 a0001c0001t0015 a0001c0001t0025	a0001c0001t0015g0027 a0001c0001t0015g0211 a0001c0001t0025g0210 a0001c0001t0015g0027 a0001c0001t0015g0211 a0001c0001t0025g0210	4	360	0.0111	15	c.-58 others(22): Show c.-58_-57insGGCGGCGGCGGCGGC	BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding	1/7	58		chr9	TogoVar
BICDL1_chr12_119984236_120099494	120033367	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0215 a0001c0007t0009g0215	1	296	0.0034	15	c.646 others(34): Show c.646-28336_646-28322dupTTTTTTTTTTTTTTT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	120045917	T T	TATAATAA others(8): Show TATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00738.hp2 others(69): Show HG00323.hp1 HG00558.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01168.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02040.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02809.hp2 HG02818.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp1 NA18939.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18962.hp2 NA18964.hp1 NA18971.hp2 NA18975.hp1 NA18979.hp2 NA18985.hp2 NA18987.hp1 NA18992.hp2 NA19003.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp1 NA19065.hp2 NA19067.hp1 NA19077.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19091.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0002c0004	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(8): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0022 a0001c0001t0025 a0001c0002t0003 a0001c0009t0002 a0002c0004t0002	a0001c0001t0002g0004 a0001c0001t0002g0133 a0001c0001t0002g0135 others(68): Show a0001c0001t0002g0004 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0007g0154 a0001c0001t0010g0134 a0001c0001t0010g0201 a0001c0001t0010g0211 a0001c0001t0012g0138 a0001c0001t0012g0178 a0001c0001t0020g0175 a0001c0001t0022g0182 a0001c0001t0025g0292 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0248 a0001c0009t0002g0148 a0002c0004t0002g0200 a0002c0004t0002g0223	72	296	0.2432	15	c.646 others(34): Show c.646-15788_646-15774dupTAATAATAATAATAA	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL2_chr16_3022682_3041944	3036694	T T	TCCAGCCC others(8): Show TCCAGCCCCCCGACCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp2 HG02886.hp1 others(4): Show HG02257.hp1 HG02257.hp2 HG02886.hp1 HG03209.hp2 HG03453.hp2 HG03516.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0001 a0001c0005t0004 a0001c0001t0002 a0001c0005t0001 a0001c0005t0004	a0001c0001t0002g0123 a0001c0005t0001g0126 a0001c0005t0004g0045 others(3): Show a0001c0001t0002g0123 a0001c0005t0001g0126 a0001c0005t0004g0045 a0001c0005t0004g0124 a0001c0005t0004g0125 a0001c0005t0004g0127	7	390	0.0180	15	c.-31 others(30): Show c.-31+199_-31+200insGGGTCGGGGGGCTGG	BICDL2	ENSG00000162069.16	transcript	ENST00000572449.6	protein_coding	1/9			chr16	TogoVar
BICRAL_chr6_42777052_42873556	42793296	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	270	0.0037	15	c.-10 others(36): Show c.-102+11210_-102+11224dupTTTTTTTTTTTTTTT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42814520	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0132 a0001c0001t0004g0132	1	270	0.0037	15	c.-6+ others(30): Show c.-6+4119_-6+4120insATATATATATATATA	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	2/12			chr6	TogoVar
BID_chr22_17729138_17779469	17759241	C C	CAAAACAA others(8): Show CAAAACAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0164 a0001c0003t0001g0164	1	362	0.0028	15	c.-58 others(32): Show c.-58-9082_-58-9068dupTTTTTTTTTTGTTTT	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
BID_chr22_17729138_17779469	17759246	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	362	0.0028	15	c.-58 others(32): Show c.-58-9073_-58-9072insTTTTTTTTTTTTTTT	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
BID_chr22_17729138_17779469	17759246	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAACA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03195.hp1 HG02717.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0353 a0001c0001t0001g0203 a0001c0001t0001g0353	2	362	0.0055	15	c.-58 others(32): Show c.-58-9087_-58-9073dupTGTTTTTTTTTTTTT	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
BID_chr22_17729138_17779469	17759246	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAACAA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0216 a0001c0003t0004g0216	1	362	0.0028	15	c.-58 others(32): Show c.-58-9073_-58-9072insTTGTTTTTTTTTTTT	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
BIK_chr22_43105750_43134712	43126188	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	386	0.0026	15	c.162 others(32): Show c.162-1508_162-1494dupTTTTTTTTTTTTTTT	BIK	ENSG00000100290.3	transcript	ENST00000216115.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
BIN1_chr2_127043032_127112154	127105467	C C	CCCTCCTC others(8): Show CCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	344	0.0029	15	c.84+ others(30): Show c.84+1378_84+1392dupAGGAGGAGGAGGAGG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18			chr2	TogoVar
BIRC6_chr2_32352023_32623878	32431181	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG04228.hp1 NA19054.hp1 others(1): Show HG01175.hp1 HG04228.hp1 NA19054.hp1 NA19054.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0024	a0001c0001t0001 a0001c0003t0003 a0001c0005t0002 others(1): Show a0001c0001t0001 a0001c0003t0003 a0001c0005t0002 a0002c0024t0002	a0001c0001t0001g0192 a0001c0003t0003g0264 a0001c0005t0002g0099 others(1): Show a0001c0001t0001g0192 a0001c0003t0003g0264 a0001c0005t0002g0099 a0002c0024t0002g0048	4	274	0.0146	15	c.324 others(32): Show c.3248+109_3248+123dupTTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	12/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32440751	T T	TTTTTTAT others(8): Show TTTTTTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG01261.hp2 others(4): Show HG01167.hp1 HG01243.hp1 HG01261.hp2 HG01346.hp1 HG01934.hp2 HG01943.hp2 HG02293.hp2	a0001 a0006 a0001 a0006	a0001c0006 a0006c0020 a0001c0006 a0006c0020	a0001c0006t0003 a0006c0020t0003 a0001c0006t0003 a0006c0020t0003	a0001c0006t0003g0004 a0001c0006t0003g0005 a0001c0006t0003g0006 others(4): Show a0001c0006t0003g0004 a0001c0006t0003g0005 a0001c0006t0003g0006 a0001c0006t0003g0007 a0001c0006t0003g0013 a0006c0020t0003g0001 a0006c0020t0003g0012	7	274	0.0256	15	c.381 others(32): Show c.3811-576_3811-575insTTTATTATTATTATT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	16/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0059 a0001c0008t0003g0059	1	274	0.0037	15	c.475 others(34): Show c.4754-2921_4754-2920insATATATATATATTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0165 a0002c0002t0003g0165	1	274	0.0037	15	c.475 others(34): Show c.4754-2921_4754-2920insATATATATATTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0133 a0001c0003t0003g0133	1	274	0.0037	15	c.475 others(34): Show c.4754-2921_4754-2920insATATATATTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(8): Show ATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0003 a0003c0017t0003	a0003c0017t0003g0135 a0003c0017t0003g0135	1	274	0.0037	15	c.475 others(34): Show c.4754-2921_4754-2920insATATATTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460273	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0026 a0001c0009t0001g0026	1	274	0.0037	15	c.475 others(34): Show c.4754-2921_4754-2920insATATATATATATATA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73			chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460998	C C	CTCTCTTC others(8): Show CTCTCTTCTCTTCTCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02135.hp2 HG02257.hp1 others(2): Show HG01884.hp2 HG02135.hp2 HG02257.hp1 HG02572.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0003t0003 a0001c0006t0003 others(1): Show a0001c0001t0001 a0001c0003t0003 a0001c0006t0003 a0002c0004t0002	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0003t0003g0032 others(2): Show a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0003t0003g0032 a0001c0006t0003g0008 a0002c0004t0002g0070	5	274	0.0183	15	c.475 others(34): Show c.4754-2142_4754-2128dupCTTCTCTTCTCTTCT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461058	T T	TTCTCCTC others(8): Show TTCTCCTCTCCTCTCC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0053 a0002c0002t0002g0053	1	274	0.0037	15	c.475 others(34): Show c.4754-2132_4754-2131insCTCTCCTCTCCTCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461058	T T	TTCTGTTC others(8): Show TTCTGTTCTCCTCTCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0059 a0001c0008t0003g0059	1	274	0.0037	15	c.475 others(34): Show c.4754-2133_4754-2132insGTTCTCCTCTCCTCT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461063	T T	TTCTCTTC others(8): Show TTCTCTTCTCCTCTCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0095 a0002c0004t0002g0095	1	274	0.0037	15	c.475 others(34): Show c.4754-2128_4754-2127insCTTCTCCTCTCCTCT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461068	T T	TTCTCCTC others(8): Show TTCTCCTCTCCTCTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp1 HG01175.hp2 others(3): Show HG00099.hp1 HG01099.hp1 HG01175.hp2 HG02040.hp1 NA19012.hp1 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0016 others(2): Show a0002c0002 a0002c0004 a0002c0016 a0002c0022 a0002c0038	a0002c0002t0002 a0002c0004t0002 a0002c0016t0002 others(2): Show a0002c0002t0002 a0002c0004t0002 a0002c0016t0002 a0002c0022t0002 a0002c0038t0002	a0002c0002t0002g0110 a0002c0002t0002g0122 a0002c0004t0002g0146 others(3): Show a0002c0002t0002g0110 a0002c0002t0002g0122 a0002c0004t0002g0146 a0002c0016t0002g0090 a0002c0022t0002g0054 a0002c0038t0002g0091	6	274	0.0219	15	c.475 others(34): Show c.4754-2078_4754-2064dupTCCTCTCCTCTCCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461068	T T	TTCTCTTC others(8): Show TTCTCTTCTGTTCTCC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19012.hp2 NA18979.hp1 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0003 a0002c0002t0002 a0001c0003t0003 a0002c0002t0002	a0001c0003t0003g0125 a0002c0002t0002g0081 a0001c0003t0003g0125 a0002c0002t0002g0081	2	274	0.0073	15	c.475 others(34): Show c.4754-2122_4754-2121insTTCTGTTCTCCTCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461068	T T	TTCTGTTC others(8): Show TTCTGTTCTCCTCTCC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0174 a0002c0004t0002g0174	1	274	0.0037	15	c.475 others(34): Show c.4754-2123_4754-2122insGTTCTCCTCTCCTCT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461111	T T	TCCTCCCC others(8): Show TCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG04228.hp1 HG01346.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0192 a0001c0001t0001g0195	2	274	0.0073	15	c.475 others(34): Show c.4754-2079_4754-2078insCCCTCCCCTCCCCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461116	T T	TCCTCCCC others(8): Show TCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01975.hp1 HG02738.hp2 others(6): Show HG00140.hp1 HG01975.hp1 HG02738.hp2 HG03491.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA19062.hp1 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0034 a0001c0001 a0002c0034	a0001c0001t0001 a0002c0034t0001 a0001c0001t0001 a0002c0034t0001	a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0225 others(6): Show a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0225 a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0259 a0001c0001t0001g0269 a0002c0034t0001g0222	9	274	0.0329	15	c.475 others(34): Show c.4754-2074_4754-2073insCCCTCCCCTCCCCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32480621	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	274	0.0037	15	c.740 others(32): Show c.7409-676_7409-662dupTTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	37/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32532171	G G	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	274	0.0037	15	c.122 others(34): Show c.12291+620_12291+621insTGTGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	61/73			chr2	TogoVar
BIVM_chr13_102794119_102846533	102833327	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01081.hp2 HG01123.hp1 others(28): Show HG00733.hp2 HG01081.hp2 HG01123.hp1 HG01255.hp2 HG01981.hp1 HG02040.hp2 HG02257.hp1 HG02300.hp2 HG02647.hp2 HG02897.hp1 HG03098.hp2 HG03453.hp1 HG03486.hp1 HG03492.hp1 HG04115.hp1 HG04184.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp2 NA18959.hp1 NA18964.hp1 NA18975.hp2 NA18983.hp1 NA19003.hp2 NA19058.hp2 NA19065.hp2 NA19079.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0026 a0001c0001t0002 a0001c0001t0014 a0001c0001t0026	a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0011 others(20): Show a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0106 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0177 a0001c0001t0002g0197 a0001c0001t0002g0218 a0001c0001t0002g0267 a0001c0001t0002g0272 a0001c0001t0002g0282 a0001c0001t0014g0085 a0001c0001t0026g0007	31	404	0.0767	15	c.103 others(34): Show c.1035-1135_1035-1121dupTTTTTTTTTTTTTTT	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
BLID_chr11_122110340_122121215	122112071	C C	CAAACAAA others(8): Show CAAACAAAACAAAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG02622.hp2 others(4): Show HG00735.hp2 HG01109.hp2 HG02622.hp2 HG02630.hp2 HG03704.hp2 NA19043.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0001 a0002c0002t0004	a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0002t0004g0000 a0001c0001t0001g0000 a0002c0002t0001g0000 a0002c0002t0004g0000	7	434	0.0161	15	c.35 others(26): Show c.3524_*3525insTGTTTTGTTTTGTTT	BLID	ENSG00000259571.2	transcript	ENST00000560104.2	protein_coding		3268		chr11	TogoVar
BLK_chr8_11489387_11569599	11504367	G G	GAAAGAAA others(8): Show GAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA20129.hp1 HG01496.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0008 a0001c0002 a0003c0008	a0001c0002t0006 a0003c0008t0008 a0001c0002t0006 a0003c0008t0008	a0001c0002t0006g0292 a0003c0008t0008g0293 a0001c0002t0006g0292 a0003c0008t0008g0293	2	308	0.0065	15	c.-2+ others(30): Show c.-2+9810_-2+9824dupGAAAAGAAAAGAAAA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLK_chr8_11489387_11569599	11533582	C C	CGGAGGAG others(8): Show CGGAGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0080 a0001c0002t0004g0080	1	308	0.0033	15	c.-1- others(30): Show c.-1-9634_-1-9620dupGAGGAGGAGGAGGAG	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLK_chr8_11489387_11569599	11535261	G G	GAAGAAGA others(8): Show GAAGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	308	0.0033	15	c.-1- others(30): Show c.-1-7958_-1-7957insGAAAGAAAGAAAGAA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLM_chr15_90712346_90821166	90778889	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG00741.hp1 others(38): Show HG00544.hp2 HG00621.hp1 HG00741.hp1 HG01192.hp1 HG01346.hp1 HG01433.hp2 HG01934.hp1 HG01934.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02109.hp2 HG02165.hp2 HG02615.hp1 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG02976.hp2 HG03130.hp1 HG03209.hp1 HG03516.hp2 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18951.hp1 NA18955.hp2 NA18957.hp1 NA18969.hp2 NA18971.hp1 NA18979.hp1 NA18986.hp2 NA18992.hp1 NA18999.hp2 NA19011.hp1 NA19057.hp1 NA19060.hp2 NA19080.hp2 NA19085.hp2 NA19086.hp2 NA19089.hp2 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0009 a0001c0017 others(3): Show a0001c0002 a0001c0009 a0001c0017 a0002c0004 a0002c0005 a0004c0008	a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0009t0001 a0001c0009t0002 a0001c0017t0001 a0002c0004t0001 a0002c0005t0001 a0002c0005t0010 a0004c0008t0002	a0001c0002t0001g0001 a0001c0002t0001g0024 a0001c0002t0001g0026 others(37): Show a0001c0002t0001g0001 a0001c0002t0001g0024 a0001c0002t0001g0026 a0001c0002t0001g0049 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0090 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0137 a0001c0002t0001g0159 a0001c0002t0001g0174 a0001c0002t0001g0191 a0001c0002t0001g0200 a0001c0002t0001g0214 a0001c0002t0001g0237 a0001c0002t0001g0241 a0001c0002t0001g0243 a0001c0002t0001g0260 a0001c0002t0001g0268 a0001c0002t0002g0160 a0001c0002t0007g0096 a0001c0009t0001g0080 a0001c0009t0001g0277 a0001c0009t0002g0076 a0001c0017t0001g0019 a0002c0004t0001g0064 a0002c0004t0001g0102 a0002c0004t0001g0107 a0002c0004t0001g0119 a0002c0004t0001g0139 a0002c0004t0001g0216 a0002c0005t0001g0058 a0002c0005t0010g0182 a0004c0008t0002g0074 a0004c0008t0002g0075 a0004c0008t0002g0253	41	280	0.1464	15	c.255 others(34): Show c.2556-3919_2556-3918insTTTTTTTTTTTTTTT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLOC1S1_chr12_55711046_55724703	55714517	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02451.hp2 others(7): Show HG01891.hp1 HG01891.hp2 HG02451.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0002g0020	10	410	0.0244	15	c.-15 others(26): Show c.-1535_-1534insAAAAAAAAAAAAAAA	BLOC1S1	ENSG00000135441.8	transcript	ENST00000548925.6	protein_coding		1528		chr12	TogoVar
BLOC1S2_chr10_100268293_100291680	100276367	C C	CCTCTCCC others(8): Show CCTCTCCCGTCTTCCT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	378	0.0027	15	c.398 others(30): Show c.398-875_398-874insAGGAAGACGGGAGAG	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BLOC1S5_chr6_8008567_8069389	8030865	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02717.hp1 others(4): Show HG02109.hp1 HG02258.hp1 HG02717.hp1 HG02896.hp2 HG02922.hp2 HG03130.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0281 a0001c0001t0005g0284 others(3): Show a0001c0001t0005g0018 a0001c0001t0005g0281 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0288	7	364	0.0192	15	c.326 others(32): Show c.326-4441_326-4440insTTTTTTTTTTTTTTT	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	3/4			chr6	TogoVar
BLTP1_chr4_122147331_122367752	122267051	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02615.hp1 HG02895.hp1 others(7): Show HG01175.hp1 HG02615.hp1 HG02895.hp1 HG02897.hp2 HG03130.hp1 HG03453.hp2 HG03669.hp1 HG06807.hp1 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0007t0001 a0001c0001t0001 a0001c0001t0004 a0001c0007t0001	a0001c0001t0001g0145 a0001c0001t0001g0299 a0001c0001t0001g0308 others(7): Show a0001c0001t0001g0145 a0001c0001t0001g0299 a0001c0001t0001g0308 a0001c0001t0001g0314 a0001c0001t0001g0325 a0001c0001t0004g0175 a0001c0007t0001g0238 a0001c0007t0001g0239 a0001c0007t0001g0240 a0001c0007t0001g0244	10	336	0.0298	15	c.749 others(32): Show c.7493+104_7493+118dupTTTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	46/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122284593	C C	CTTACATA others(8): Show CTTACATATTTATGTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG02257.hp1 others(11): Show HG00639.hp1 HG00738.hp2 HG02257.hp1 HG02451.hp1 HG02622.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03540.hp1 HG06807.hp1 NA18906.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0011 a0001 a0011	a0001c0007 a0011c0040 a0011c0041 a0001c0007 a0011c0040 a0011c0041	a0001c0007t0001 a0011c0040t0001 a0011c0041t0001 a0001c0007t0001 a0011c0040t0001 a0011c0041t0001	a0001c0007t0001g0157 a0001c0007t0001g0238 a0001c0007t0001g0239 others(11): Show a0001c0007t0001g0157 a0001c0007t0001g0238 a0001c0007t0001g0239 a0001c0007t0001g0240 a0001c0007t0001g0241 a0001c0007t0001g0242 a0001c0007t0001g0243 a0001c0007t0001g0244 a0001c0007t0001g0245 a0001c0007t0001g0247 a0001c0007t0001g0283 a0001c0007t0001g0284 a0011c0040t0001g0248 a0011c0041t0001g0246	14	336	0.0417	15	c.903 others(34): Show c.9038-1948_9038-1947insTTACATATTTATGTA	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	52/87			chr4	TogoVar
BLTP1_chr4_122147331_122367752	122321979	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01099.hp2 HG02040.hp2 others(13): Show HG00673.hp1 HG01099.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02886.hp1 NA18966.hp1 NA18975.hp2 NA18979.hp1 NA18983.hp2 NA18992.hp2 NA19002.hp2 NA19010.hp1 NA19079.hp2 NA19088.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0023 others(1): Show a0001c0001 a0001c0003 a0001c0023 a0002c0004	a0001c0001t0001 a0001c0003t0001 a0001c0023t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0023t0001 a0002c0004t0001	a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0261 others(13): Show a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0279 a0001c0001t0001g0288 a0001c0003t0001g0179 a0001c0003t0001g0203 a0001c0003t0001g0229 a0001c0003t0001g0274 a0001c0003t0001g0290 a0001c0023t0001g0249 a0002c0004t0001g0135 a0002c0004t0001g0151	16	336	0.0476	15	c.109 others(36): Show c.10996-2426_10996-2412dupTTTTTTTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	64/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122327099	G G	GTGTTTTG others(8): Show GTGTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG01168.hp2 others(27): Show HG00558.hp1 HG00639.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02523.hp2 HG02630.hp1 HG02809.hp2 HG03516.hp1 HG03579.hp2 NA18942.hp1 NA18943.hp1 NA18952.hp2 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA19010.hp2 NA19011.hp2 NA19043.hp1 NA19054.hp2 NA19086.hp2 NA19088.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0010 a0012 a0013	a0001c0001 a0001c0003 a0001c0007 others(6): Show a0001c0001 a0001c0003 a0001c0007 a0002c0004 a0002c0043 a0006c0014 a0010c0020 a0012c0042 a0013c0044	a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 others(6): Show a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 a0002c0004t0001 a0002c0043t0001 a0006c0014t0001 a0010c0020t0001 a0012c0042t0001 a0013c0044t0001	a0001c0001t0001g0141 a0001c0001t0001g0155 a0001c0001t0001g0317 others(27): Show a0001c0001t0001g0141 a0001c0001t0001g0155 a0001c0001t0001g0317 a0001c0003t0001g0228 a0001c0007t0001g0243 a0002c0004t0001g0049 a0002c0004t0001g0127 a0002c0004t0001g0128 a0002c0004t0001g0130 a0002c0004t0001g0134 a0002c0004t0001g0135 a0002c0004t0001g0136 a0002c0004t0001g0137 a0002c0004t0001g0138 a0002c0004t0001g0139 a0002c0004t0001g0148 a0002c0004t0001g0149 a0002c0004t0001g0150 a0002c0004t0001g0151 a0002c0004t0001g0153 a0002c0004t0001g0154 a0002c0004t0001g0234 a0002c0043t0001g0132 a0006c0014t0001g0117 a0006c0014t0001g0118 a0006c0014t0001g0144 a0010c0020t0001g0104 a0010c0020t0001g0180 a0012c0042t0001g0152 a0013c0044t0001g0133	30	336	0.0893	15	c.112 others(34): Show c.11260-984_11260-970dupTGTTTTGTTTTGTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	67/87		INFO_REALIGN_3_PRIME	chr4	TogoVar

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