Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
P2RY8_chrX_1457581_1542185	1471397	TGTATGAT others(23): Show TGTATGATCCACCCTCCTCGGCCTCCCAAAG	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	114	0.0088	-30	c.-24 others(47): Show c.-24-4845_-24-4816delCTTTGGGAGGCCGAGGAGGGTGGATCAT AC	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P3H2_chr3_189951728_190125897	189970177	CATATATA others(23): Show CATATATATATGCAAATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0286 a0001c0003t0001g0286	1	304	0.0033	-30	c.189 others(47): Show c.1893+609_1893+638delATATATATATATATATTTGCATATATAT AT	P3H2	ENSG00000090530.10	transcript	ENST00000319332.10	protein_coding	13/14			chr3	TogoVar
P3H3_chr12_6823407_6844847	6829373	TGGGGTCC others(23): Show TGGGGTCCTCCGAGGCCAGACCTCTGCGGGC	T T	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0050 a0002c0002t0002g0050	1	452	0.0022	-30	c.498 others(45): Show c.498+440_499-452delTCCTCCGAGGCCAGACCTCTGCGGGCGGGG	P3H3	ENSG00000110811.20	transcript	ENST00000290510.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
P4HA3_chr11_74261657_74316640	74316368	CTAATCTA others(23): Show CTAATCTACTTTCCATCTATATGGATTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	398	0.0025	-30	c.-47 others(41): Show c.-4787_-4758delAAAAAATCCATATAGATGGAAAGTAGATTA	P4HA3	ENSG00000149380.12	transcript	ENST00000331597.9	protein_coding		4729		chr11	TogoVar
PABPC1L_chr20_44905060_44944316	44936204	ATCCTCCC others(23): Show ATCCTCCCACTTTGGCCTTCCAAAGTTCTAG	A A	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0206 a0002c0002t0002g0206	1	396	0.0025	-30	c.156 others(47): Show c.1567-432_1567-403delTCCTCCCACTTTGGCCTTCCAAAGTTCT AG	PABPC1L	ENSG00000101104.13	transcript	ENST00000217073.7	protein_coding	11/14			chr20	TogoVar
PABPN1L_chr16_88858333_88871660	88864547	CGTCACGG others(23): Show CGTCACGGCCAGCACCCCTGCAGAGGGGGGG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp2 HG00642.hp1 others(66): Show HG00609.hp2 HG00639.hp2 HG00642.hp1 HG01070.hp2 HG01071.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01891.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02165.hp2 HG02280.hp2 HG02300.hp1 HG02559.hp1 HG02602.hp2 HG02723.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18984.hp1 NA18988.hp2 NA18989.hp1 NA18992.hp1 NA18994.hp2 NA18999.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19078.hp1 NA19091.hp2 NA20300.hp1 NA21309.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0020 a0013c0016	a0001c0001t0001 a0001c0001t0003 a0001c0002t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0005 a0001c0004t0002 a0001c0020t0005 a0013c0016t0003	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0023 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0003g0033 a0001c0002t0005g0016 a0001c0002t0005g0028 a0001c0004t0002g0020 a0001c0004t0002g0025 a0001c0004t0002g0043 a0001c0020t0005g0073 a0013c0016t0003g0059	69	452	0.1527	-30	c.655 others(45): Show c.655-198_655-169delCCCCCCCTCTGCAGGGGTGCTGGCCGTGAC	PABPN1L	ENSG00000205022.9	transcript	ENST00000419291.7	protein_coding	5/6			chr16	TogoVar
PACRG_chr6_162722974_163320500	162958868	TATATATA others(23): Show TATATATATATATATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18959.hp1 NA18959.hp2 HG03017.hp2 NA18959.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0113 a0001c0001t0004g0073 a0001c0001t0004g0076 a0001c0001t0002g0113 a0001c0001t0004g0073 a0001c0001t0004g0076	3	130	0.0231	-30	c.292 others(51): Show c.292-103280_292-103251delTATATATATATATATAGAGAGAGA GAGAGA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PACRG_chr6_162722974_163320500	163319513	TATATATA others(23): Show TATATATATATATATATATATATATACATAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01257.hp2 HG01346.hp1 others(20): Show HG00280.hp1 HG01257.hp2 HG01346.hp1 HG01361.hp2 HG01517.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp2 HG02148.hp1 HG02148.hp2 HG02559.hp1 HG02886.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03704.hp1 HG03704.hp2 HG04204.hp1 NA18971.hp2 NA18981.hp2 NA18989.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0030 others(20): Show a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0002g0042 a0001c0001t0002g0067 a0001c0001t0004g0073 a0001c0001t0006g0009 a0001c0001t0006g0011 a0001c0001t0006g0012	23	130	0.1769	-30	c.45 others(41): Show c.4527_*4556delATATATATATATATATATATATATACATAG	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding		4014		chr6	TogoVar
PACS2_chr14_105309748_105403147	105335319	AGTGGCTG others(23): Show AGTGGCTGTGACGCTGTGGCCGGCGCCTGGC	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03669.hp1 HG02976.hp2 HG03669.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0029 a0001c0001t0001 a0002c0002t0029	a0001c0001t0001g0186 a0002c0002t0029g0113 a0001c0001t0001g0186 a0002c0002t0029g0113	2	210	0.0095	-30	c.120 others(49): Show c.120-13137_120-13108delGTGACGCTGTGGCCGGCGCCTGGCGT GGCT	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PACS2_chr14_105309748_105403147	105335356	GTGACGCT others(23): Show GTGACGCTGTGGCCGGCGCCTGGCGTGGCTC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG01074.hp2 others(20): Show HG00323.hp1 HG00423.hp2 HG01074.hp2 HG01243.hp1 HG02055.hp2 HG02071.hp2 HG02135.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03195.hp1 HG03486.hp1 HG03540.hp2 HG03710.hp1 NA18906.hp1 NA18944.hp1 NA18954.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0002c0012 a0007c0014 a0008c0011	a0001c0001t0001 a0001c0001t0018 a0001c0001t0023 others(9): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0023 a0001c0004t0001 a0001c0004t0014 a0001c0004t0019 a0002c0002t0002 a0002c0002t0003 a0002c0002t0012 a0002c0012t0001 a0007c0014t0001 a0008c0011t0002	a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0111 others(20): Show a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0018g0115 a0001c0001t0023g0144 a0001c0004t0001g0005 a0001c0004t0001g0190 a0001c0004t0001g0191 a0001c0004t0001g0192 a0001c0004t0014g0193 a0001c0004t0019g0195 a0002c0002t0002g0194 a0002c0002t0003g0183 a0002c0002t0012g0197 a0002c0002t0012g0198 a0002c0012t0001g0005 a0007c0014t0001g0152 a0008c0011t0002g0196	23	210	0.1095	-30	c.120 others(49): Show c.120-13053_120-13024delGTGGCTCTGACGCTGTGGCCGGCGCC TGGC	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172376	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19079.hp1 NA19003.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0157 a0001c0001t0001g0140 a0001c0001t0001g0157	2	432	0.0046	-30	c.46 others(41): Show c.4678_*4707delTATATATATATATATATATATATATATATT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1332		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172378	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG03669.hp1 HG02602.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0162 a0001c0001t0028g0208 a0001c0001t0001g0162 a0001c0001t0028g0208	2	432	0.0046	-30	c.46 others(41): Show c.4680_*4709delTATATATATATATATATATATATATATTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1334		chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172380	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01928.hp1 HG02071.hp2 others(3): Show HG01496.hp2 HG01928.hp1 HG02071.hp2 HG02155.hp1 HG03704.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0033 a0001c0001t0001g0179 a0001c0001t0004g0171 others(3): Show a0001c0001t0001g0033 a0001c0001t0001g0179 a0001c0001t0004g0171 a0001c0001t0004g0209 a0001c0001t0007g0011 a0001c0001t0007g0018	6	432	0.0139	-30	c.46 others(41): Show c.4682_*4711delTATATATATATATATATATATATATTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1336		chr11	TogoVar
PAFAH2_chr1_25954767_26003063	25987237	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	310	0.0032	-30	c.341 others(45): Show c.341+964_341+993delATTTTATTTTATTTTATTTTATTTTATTTT	PAFAH2	ENSG00000158006.14	transcript	ENST00000374282.8	protein_coding	4/10			chr1	TogoVar
PAG1_chr8_80962810_81117068	81035876	CACATGTG others(23): Show CACATGTGTATATATGTATTAACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0090 a0001c0001t0015g0090	1	256	0.0039	-30	c.-17 others(49): Show c.-174-5817_-174-5788delATATATATGTTAATACATATATACAC ATGT	PAG1	ENSG00000076641.4	transcript	ENST00000220597.4	protein_coding	2/8			chr8	TogoVar
PAGE1_chrX_49682447_49700984	49689977	GTGTGTAT others(23): Show GTGTGTATATACACACATATATATGTGTATA	G G	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	322	0.0031	-30	c.293 others(45): Show c.293-464_293-435delTATACACATATATATGTGTGTATATACACA	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAGE1_chrX_49682447_49700984	49690082	TATATATG others(23): Show TATATATGTGTATATATGTGTATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03453.hp1 HG02055.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0034 a0001c0001t0002g0035	2	322	0.0062	-30	c.293 others(45): Show c.293-569_293-540delGTGTATATATACACATATATACACATATAT	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAH_chr12_102831889_102922244	102835581	ATACATAT others(23): Show ATACATATGCACATACATATATGTGCCTATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG01099.hp2 others(20): Show HG00558.hp1 HG00642.hp1 HG01099.hp2 HG01106.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01981.hp2 HG02738.hp2 HG03017.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp2 NA18942.hp1 NA18966.hp2 NA18992.hp1 NA18993.hp2 NA19004.hp2 NA19007.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(20): Show a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0159 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0003g0271	23	312	0.0737	-30	c.35 others(41): Show c.3564_*3593delCATAGGCACATATATGTATGTGCATATGTA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1307		chr12	TogoVar
PAH_chr12_102831889_102922244	102835652	CATACATA others(23): Show CATACATATATGTGCATACGTACATATGCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG04228.hp1 NA19057.hp1 HG03516.hp2 HG04228.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0004t0001 a0001c0006t0016 a0001c0001t0001 a0001c0004t0001 a0001c0006t0016	a0001c0001t0001g0024 a0001c0004t0001g0141 a0001c0006t0016g0163 a0001c0001t0001g0024 a0001c0004t0001g0141 a0001c0006t0016g0163	3	312	0.0096	-30	c.34 others(41): Show c.3493_*3522delATGCATATGTACGTATGCACATATATGTAT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1236		chr12	TogoVar
PAH_chr12_102831889_102922244	102867850	TATGTATA others(23): Show TATGTATATACATATATAGATGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(88): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02040.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp2 HG02647.hp2 HG02698.hp1 HG02738.hp1 HG02896.hp1 HG02897.hp2 HG03516.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG04199.hp1 NA18747.hp2 NA18939.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18951.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18970.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18992.hp2 NA18993.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19012.hp2 NA19054.hp1 NA19057.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19076.hp2 NA19077.hp1 NA19086.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 a0001c0002t0015 a0001c0002t0019 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0003t0003 a0001c0008t0023 a0001c0008t0024 a0001c0010t0001	a0001c0001t0001g0019 a0001c0001t0002g0210 a0001c0001t0004g0285 others(86): Show a0001c0001t0001g0019 a0001c0001t0002g0210 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0002t0001g0003 a0001c0002t0001g0021 a0001c0002t0001g0027 a0001c0002t0001g0029 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0051 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0175 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0185 a0001c0002t0001g0209 a0001c0002t0003g0231 a0001c0002t0011g0089 a0001c0002t0015g0007 a0001c0002t0019g0035 a0001c0002t0020g0078 a0001c0002t0021g0083 a0001c0002t0022g0025 a0001c0003t0003g0266 a0001c0003t0003g0267 a0001c0003t0003g0268 a0001c0003t0003g0272 a0001c0003t0003g0274 a0001c0003t0003g0287 a0001c0003t0003g0288 a0001c0003t0003g0289 a0001c0003t0003g0290 a0001c0008t0023g0242 a0001c0008t0024g0241 a0001c0010t0001g0001	91	312	0.2917	-30	c.442 others(47): Show c.442-1217_442-1188delGTATATATACATCTATATATGTATATAC AT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAK4_chr19_39120786_39184404	39144141	CAGATAGA others(23): Show CAGATAGATAGATAGATAGATTAGATTAGAT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0264 a0001c0001t0006g0264	1	368	0.0027	-30	c.-96 others(49): Show c.-96+18243_-96+18272delTAGATTAGATAGATAGATAGATAGAT AGAT	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAK6_chr15_40234063_40282487	40249263	TTAGGTTT others(23): Show TTAGGTTTCAACAGATGAATCTTGGGGGACA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01109.hp1 others(11): Show HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01243.hp1 HG01243.hp2 HG01891.hp1 HG02055.hp2 HG02280.hp2 HG02615.hp1 HG02723.hp2 HG03195.hp2 HG03453.hp2 NA19030.hp1 NA20300.hp2	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0011	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0010c0016 a0011c0017	a0001c0001t0001 a0001c0001t0018 a0001c0001t0032 others(7): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0032 a0001c0002t0010 a0001c0002t0015 a0001c0002t0029 a0001c0002t0059 a0002c0003t0031 a0010c0016t0030 a0011c0017t0009	a0001c0001t0001g0075 a0001c0001t0018g0086 a0001c0001t0032g0219 others(11): Show a0001c0001t0001g0075 a0001c0001t0018g0086 a0001c0001t0032g0219 a0001c0002t0010g0014 a0001c0002t0010g0084 a0001c0002t0010g0357 a0001c0002t0010g0360 a0001c0002t0010g0390 a0001c0002t0015g0014 a0001c0002t0029g0361 a0001c0002t0059g0356 a0002c0003t0031g0359 a0010c0016t0030g0321 a0011c0017t0009g0073	14	426	0.0329	-30	c.-11 others(49): Show c.-117-3887_-117-3858delACATAGGTTTCAACAGATGAATCTTG GGGG	PAK6	ENSG00000137843.12	transcript	ENST00000560346.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
PALB2_chr16_23598165_23646310	23645083	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG02717.hp1 HG02809.hp2 others(3): Show HG00544.hp2 HG02717.hp1 HG02809.hp2 HG03239.hp1 HG03834.hp2 NA20752.hp2	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0001 a0002c0002 a0017c0008 a0001c0001 a0002c0002 a0017c0008	a0001c0001t0001 a0002c0002t0001 a0017c0008t0001 a0001c0001t0001 a0002c0002t0001 a0017c0008t0001	a0001c0001t0001g0117 a0002c0002t0001g0019 a0002c0002t0001g0263 others(3): Show a0001c0001t0001g0117 a0002c0002t0001g0019 a0002c0002t0001g0263 a0002c0002t0001g0268 a0002c0002t0001g0271 a0017c0008t0001g0245	6	326	0.0184	-30	c.-39 others(41): Show c.-3956_-3927delTATATATATATATATATATATATATATATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3774		chr16	TogoVar
PALLD_chr4_168492052_168933441	168759196	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0091 a0001c0001t0005g0091	1	156	0.0064	-30	c.196 others(51): Show c.1964+47275_1964+47304delAAAAAATATATATATATATATATA TATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110035844	TATATATG others(23): Show TATATATGATATGTTGTGTGTTATATATAAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01175.hp2 HG01515.hp1 HG00140.hp2 HG01175.hp2 HG01515.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0002g0112 a0001c0001t0002g0115 a0003c0003t0001g0022 a0001c0001t0002g0112 a0001c0001t0002g0115 a0003c0003t0001g0022	3	222	0.0135	-30	c.582 others(49): Show c.582+19842_582+19871delGATATGTTGTGTGTTATATATAACAT ATAT	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALMD_chr1_99641113_99699535	99683054	AAGAGAGA others(23): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA19080.hp2 NA18978.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0127 a0001c0001t0001g0129	2	380	0.0053	-30	c.252 others(47): Show c.252-3614_252-3585delGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALS1_chr14_67236435_67341061	67335095	CATGCCAT others(23): Show CATGCCATACTTTTAGGAAGTCTGAGATGAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0173 a0001c0001t0024g0173	1	290	0.0035	-30	c.21 others(41): Show c.2141_*2170delTGCCATACTTTTAGGAAGTCTGAGATGATA	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	15/15	2141	INFO_REALIGN_3_PRIME	chr14	TogoVar
PAM_chr5_102750305_103034716	102882052	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA20300.hp1 NA19064.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0106 a0001c0002t0004g0134 a0001c0001t0001g0106 a0001c0002t0004g0134	2	188	0.0106	-30	c.210 others(49): Show c.210+14689_210+14718delTATATATATATATATATATATATATA TATA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAOX_chr10_133374262_133396694	133379085	GCCTCCCC others(23): Show GCCTCCCCGCGCCTCCCCGCGCCTCCCCGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0127 a0001c0002t0002g0127	1	346	0.0029	-30	c.-23 others(39): Show c.-231_-202delCCTCCCCGCGCCTCCCCGCGCCTCCCCGCC	PAOX	ENSG00000148832.16	transcript	ENST00000278060.10	protein_coding		176		chr10	TogoVar
PAOX_chr10_133374262_133396694	133379115	CCCTCCCC others(23): Show CCCTCCCCGCGCCTCCCCGCCCCTCCCCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	346	0.0029	-30	c.-20 others(39): Show c.-201_-172delCCTCCCCGCGCCTCCCCGCCCCTCCCCGCG	PAOX	ENSG00000148832.16	transcript	ENST00000278060.10	protein_coding		146		chr10	TogoVar
PAOX_chr10_133374262_133396694	133379125	GCCTCCCC others(23): Show GCCTCCCCGCCCCTCCCCGCGCCTCCCCGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 NA18971.hp2 HG04115.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0043 a0001c0002t0002g0014 a0001c0002t0002g0043	2	346	0.0058	-30	c.-19 others(39): Show c.-191_-162delCCTCCCCGCCCCTCCCCGCGCCTCCCCGCC	PAOX	ENSG00000148832.16	transcript	ENST00000278060.10	protein_coding		136		chr10	TogoVar
PAOX_chr10_133374262_133396694	133379165	CCCTCCCC others(23): Show CCCTCCCCGCCCCTCCCCGCGCCTCCCCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0043	1	346	0.0029	-30	c.-15 others(39): Show c.-151_-122delCCTCCCCGCCCCTCCCCGCGCCTCCCCGCG	PAOX	ENSG00000148832.16	transcript	ENST00000278060.10	protein_coding		96		chr10	TogoVar
PAQR5_chr15_69293912_69412780	69300918	TCTCTCTC others(23): Show TCTCTCTCTCTCTCTCTCTCTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG00621.hp1 others(7): Show HG00423.hp2 HG00597.hp2 HG00621.hp1 HG01891.hp1 HG02602.hp1 HG03704.hp2 HG04204.hp1 NA18954.hp1 NA18957.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0080 others(7): Show a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0080 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0121	10	284	0.0352	-30	c.-27 others(49): Show c.-277+1863_-277+1892delCTCTCTCTCTCTCTCTCTCTCTTTCT TTCC	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8			chr15	TogoVar
PAQR5_chr15_69293912_69412780	69322691	GGAAGAAG others(23): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02922.hp1 HG03516.hp2 others(1): Show HG02647.hp2 HG02922.hp1 HG03516.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 others(1): Show a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0129	4	284	0.0141	-30	c.-27 others(51): Show c.-276-14599_-276-14570delAGAAGAAGAAGAAGAAGAAGAAGA AGAAGA	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69322781	AGAAGACG others(23): Show AGAAGACGAGGAAGAAGAAGAAGAGGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	284	0.0035	-30	c.-27 others(51): Show c.-276-14554_-276-14525delCGAGGAAGAAGAAGAAGAGGAAGA GGAAGA	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69365046	AATTTTAT others(23): Show AATTTTATTTTATTTTATTTTATTTTATTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(142): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02738.hp1 HG02818.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp1 HG04184.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0003t0003 a0001c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 others(142): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0002g0034 a0001c0001t0002g0144 a0001c0001t0002g0181 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0137 a0001c0001t0004g0139 a0001c0001t0004g0141 a0001c0001t0004g0158 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0197 a0001c0001t0004g0218 a0001c0001t0004g0231 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0047 a0001c0001t0005g0189 a0001c0001t0005g0226 a0001c0001t0008g0092 a0001c0001t0008g0095 a0001c0001t0012g0156 a0001c0001t0013g0113 a0001c0001t0014g0006 a0001c0001t0015g0225 a0001c0001t0016g0109 a0001c0001t0017g0053 a0001c0001t0021g0246 a0001c0003t0003g0182 a0001c0004t0001g0029 a0001c0004t0001g0254	145	284	0.5106	-30	c.51+ others(45): Show c.51+4955_51+4984delTATTTTATTTTATTTTATTTTATTTTATTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69382777	CATATATA others(23): Show CATATATATATATATATATATGACCATATAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0246 a0001c0001t0021g0246	1	284	0.0035	-30	c.180 others(47): Show c.180-1879_180-1850delGACCATATATATATATATATATATATAT AT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69384005	TTCATGGT others(23): Show TTCATGGTGGAGGGTGAGTGGGCCTCTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG04204.hp1 HG02647.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0080 a0001c0001t0021g0246 a0001c0001t0001g0080 a0001c0001t0021g0246	2	284	0.0070	-30	c.180 others(45): Show c.180-627_180-598delGAGTGGGCCTCTGTGCTCATGGTGGAGGGT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69384084	GGGGCCTC others(23): Show GGGGCCTCTGTGCTCATGGTGGAGGGTGAGT	G G	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0160	1	284	0.0035	-30	c.180 others(45): Show c.180-533_180-504delTGGGCCTCTGTGCTCATGGTGGAGGGTGAG	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3B_chr2_204540475_205625162	204998330	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0001 a0005c0013t0001g0001	1	54	0.0185	-30	c.394 others(49): Show c.394+33009_394+33038delATATATATATATATATATATATATAT ATGT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	204998332	ATATATAT others(23): Show ATATATATATATATATATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0045 a0003c0005t0005g0045	1	54	0.0185	-30	c.394 others(49): Show c.394+33011_394+33040delATATATATATATATATATATATATAT GTGT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARN_chr16_14430701_14635260	14533421	CGGAGAGG others(23): Show CGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0151 a0001c0002t0003g0151	1	169	0.0059	-30	c.148 others(51): Show c.1480+18570_1480+18599delCTCTCCCTCTCCCTCTCCCTCTCC CTCTCC	PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	21/23			chr16	TogoVar
PARP11_chr12_3803861_3878399	3874439	AGTAGAGA others(23): Show AGTAGAGACAGGTTTTCGCCATGTTGGCCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0006 a0001c0001t0009g0006	1	416	0.0024	-30	c.-12 others(41): Show c.-1240_-1211delCTGGCCAACATGGCGAAAACCTGTCTCTAC	PARP11	ENSG00000111224.14	transcript	ENST00000228820.9	protein_coding		1041		chr12	TogoVar
PARP12_chr7_140018749_140067951	140035990	GAGGAGGA others(23): Show GAGGAGGAGGAGAAGGAGGAGAAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19043.hp1 HG02615.hp2 NA19043.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0180 a0002c0007t0003g0181 a0002c0007t0003g0180 a0002c0007t0003g0181	2	360	0.0056	-30	c.132 others(49): Show c.1325-1689_1325-1660delTCTCCTCCTTCTCCTCCTTCTCCTCC TCCT	PARP12	ENSG00000059378.13	transcript	ENST00000263549.8	protein_coding	7/11			chr7	TogoVar
PARP2_chr14_20338635_20362904	20347350	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0277 a0001c0002t0001g0277	1	420	0.0024	-30	c.324 others(45): Show c.324+439_324+468delGTGTGTATATATATATATATATATATATAT	PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PARP2_chr14_20338635_20362904	20347370	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	420	0.0024	-30	c.324 others(45): Show c.324+459_324+488delATATATATATATATATATATATATATATTT	PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PARP9_chr3_122522924_122569300	122562156	CTCTTTTC others(23): Show CTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0163 a0001c0002t0001g0163	1	436	0.0023	-30	c.-90 others(47): Show c.-90+2059_-90+2088delAAAGAAAAGAAAAGAAAAGAAAAGAAAA GA	PARP9	ENSG00000138496.17	transcript	ENST00000682323.1	protein_coding	1/10			chr3	TogoVar
PARVB_chr22_44019302_44177939	44021756	GACTCACA others(23): Show GACTCACACACACACACACACACACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01516.hp2 HG01517.hp2 HG01346.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0198 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0001t0002g0198 a0001c0002t0003g0200 a0001c0002t0003g0201	3	332	0.0090	-30	c.-25 others(41): Show c.-2583_-2554delACTCACACACACACACACACACACACACAC	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding		2545		chr22	TogoVar
PARVB_chr22_44019302_44177939	44021759	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01175.hp1 others(1): Show HG00140.hp2 HG00741.hp2 HG01175.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0005 a0001c0001t0006 a0001c0002t0023 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0002t0023 a0002c0003t0003	a0001c0001t0005g0245 a0001c0001t0006g0203 a0001c0002t0023g0202 others(1): Show a0001c0001t0005g0245 a0001c0001t0006g0203 a0001c0002t0023g0202 a0002c0003t0003g0031	4	332	0.0121	-30	c.-25 others(41): Show c.-2580_-2551delCACACACACACACACACACACACACACACA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding		2542		chr22	TogoVar
PARVB_chr22_44019302_44177939	44023537	CAAAATAA others(23): Show CAAAATAAAATAAAATAAAATAAAATAAAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG03516.hp2 HG02809.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0075 a0001c0001t0004 a0001c0001t0075	a0001c0001t0004g0153 a0001c0001t0075g0095 a0001c0001t0004g0153 a0001c0001t0075g0095	2	332	0.0060	-30	c.-80 others(39): Show c.-802_-773delAAAATAAAATAAAATAAAATAAAATAAAAT	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding		764		chr22	TogoVar

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