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
PAGE1_chrX_49682447_49700984	49689927	GGGTGTAT others(30): Show GGGTGTATATATATGTGTGTATATACACACATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03017.hp1 HG03927.hp1 others(3): Show HG00558.hp2 HG03017.hp1 HG03927.hp1 NA19002.hp1 NA19010.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0149 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0149 a0001c0001t0001g0232 a0001c0001t0001g0235	6	322	0.0186	-37	c.293 others(52): Show c.293-421_293-385delATATATATGTGTGTATATACACACATATAT ATACACC	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAK5_chr20_9532370_9844076	9766371	TCAAGCAG others(30): Show TCAAGCAGAATATATATGTATATATATATTCAAGCAGA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp1 HG02896.hp1 others(6): Show HG02572.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03579.hp1 NA18979.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0006 a0002c0001 others(1): Show a0001c0002 a0001c0006 a0002c0001 a0003c0003	a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 others(3): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0006t0003 a0002c0001t0001 a0003c0003t0003	a0001c0002t0002g0096 a0001c0002t0002g0165 a0001c0002t0002g0201 others(6): Show a0001c0002t0002g0096 a0001c0002t0002g0165 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0006g0004 a0001c0002t0007g0154 a0001c0006t0003g0147 a0002c0001t0001g0085 a0003c0003t0003g0131	9	208	0.0433	-37	c.-16 others(58): Show c.-161-54973_-161-54937delTCTGCTTGAATATATATATACATA TATATTCTGCTTG	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PALLD_chr4_168492052_168933441	168709604	GAGGGAGG others(30): Show GAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG01884.hp1 others(27): Show HG00597.hp1 HG00597.hp2 HG01884.hp1 HG02451.hp2 HG02698.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03491.hp1 HG03540.hp1 HG03654.hp1 HG06807.hp1 NA18906.hp2 NA18972.hp1 NA18989.hp1 NA19001.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp2 NA19077.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0019 a0002c0003 a0002c0006 a0002c0010 a0003c0008 a0004c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0020 a0001c0002t0006 a0001c0002t0010 a0001c0004t0002 a0001c0004t0003 a0001c0004t0005 a0001c0004t0006 a0001c0004t0011 a0001c0004t0015 a0001c0004t0018 a0001c0019t0006 a0002c0003t0003 a0002c0003t0005 a0002c0003t0009 a0002c0006t0007 a0002c0010t0001 a0002c0010t0004 a0003c0008t0004 a0004c0025t0005	a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0077 others(27): Show a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0002g0089 a0001c0001t0003g0009 a0001c0001t0003g0156 a0001c0001t0005g0097 a0001c0001t0020g0098 a0001c0002t0006g0090 a0001c0002t0010g0093 a0001c0004t0002g0108 a0001c0004t0002g0120 a0001c0004t0002g0130 a0001c0004t0002g0131 a0001c0004t0003g0020 a0001c0004t0005g0116 a0001c0004t0006g0096 a0001c0004t0011g0135 a0001c0004t0015g0011 a0001c0004t0018g0021 a0001c0019t0006g0118 a0002c0003t0003g0088 a0002c0003t0005g0109 a0002c0003t0005g0132 a0002c0003t0009g0094 a0002c0006t0007g0045 a0002c0010t0001g0082 a0002c0010t0004g0044 a0003c0008t0004g0023 a0004c0025t0005g0101	30	156	0.1923	-37	c.162 others(54): Show c.1621+461_1621+497delGAGGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGG	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALMD_chr1_99641113_99699535	99683086	GAGAGAAA others(30): Show GAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	380	0.0026	-37	c.252 others(54): Show c.252-3588_252-3552delGAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPPA_chr9_116148791_116407321	116289149	TATATATA others(30): Show TATATATATATAGCATATATATATAGCATATATGTAGC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01978.hp2 HG02273.hp1 HG01257.hp1 HG01978.hp2 HG02273.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0044 a0002c0003 a0002c0004 a0002c0044	a0002c0003t0001 a0002c0004t0034 a0002c0044t0001 a0002c0003t0001 a0002c0004t0034 a0002c0044t0001	a0002c0003t0001g0070 a0002c0004t0034g0214 a0002c0044t0001g0065 a0002c0003t0001g0070 a0002c0004t0034g0214 a0002c0044t0001g0065	3	234	0.0128	-37	c.295 others(58): Show c.2954-13598_2954-13562delTAGCATATATATATAGCATATATG TAGCATATATATA	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAQR5_chr15_69293912_69412780	69300630	TTTCTTTC others(30): Show TTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG00738.hp1 others(11): Show HG00733.hp1 HG00733.hp2 HG00738.hp1 HG02257.hp1 HG02486.hp1 HG03669.hp1 HG04204.hp1 NA18998.hp2 NA18999.hp2 NA19030.hp1 NA19043.hp2 NA19067.hp1 NA19074.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0002c0002t0002	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(11): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0002g0078 a0001c0001t0022g0049 a0002c0002t0002g0004 a0002c0002t0002g0076	14	284	0.0493	-37	c.-27 others(56): Show c.-277+1583_-277+1619delTTCTTTCTTTCTTTTCTTTCTTTCTT TCATTCTTTCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD6G_chr18_80152232_80252514	80192506	CGGGGGAG others(30): Show CGGGGGAGAGCAGGTGCCACGGCGGGAGCCCAGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp2 HG03471.hp1 others(2): Show HG02451.hp1 HG03195.hp2 HG03471.hp1 NA18522.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0043 a0001c0001t0003g0044 others(2): Show a0001c0001t0003g0024 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046	5	382	0.0131	-37	c.295 others(56): Show c.295+10167_295+10203delATCCCCTGGGCTCCCGCCGTGGCACC TGCTCTCCCCC	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARP10_chr8_143972158_143991460	143978943	CTTCAGAG others(30): Show CTTCAGAGTGAAAGAAAACCCTGCAAGTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0222 a0002c0002t0002g0222	1	380	0.0026	-37	c.255 others(54): Show c.2557-899_2557-863delAAAAAAAAAAACTTGCAGGGTTTTCTTT CACTCTGAA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARVB_chr22_44019302_44177939	44113793	CTAAGGCC others(30): Show CTAAGGCCCTGTACCAACACAGATACGTTGTTACTAAG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01346.hp2 HG01109.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0198 a0001c0001t0004g0226 a0001c0001t0002g0198 a0001c0001t0004g0226	2	332	0.0060	-37	c.274 others(54): Show c.274-5234_274-5198delTACCAACACAGATACGTTGTTACTAAGT AAGGCCCTG	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44114077	GTAAGGCC others(30): Show GTAAGGCCCTGCACCAACACAGATACATTGTTACTAAC	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02165.hp1 HG02056.hp2 HG02165.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0021 a0001c0001 a0007c0021	a0001c0001t0001 a0007c0021t0011 a0001c0001t0001 a0007c0021t0011	a0001c0001t0001g0008 a0007c0021t0011g0301 a0001c0001t0001g0008 a0007c0021t0011g0301	2	332	0.0060	-37	c.274 others(54): Show c.274-4935_274-4899delATTGTTACTAACTAAGGCCCTGCACCAA CACAGATAC	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44114438	GTAAGGCC others(30): Show GTAAGGCCCTGCACCAACACAGATACATTGTTACTAAC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0041 a0001c0027t0041	a0001c0027t0041g0320 a0001c0027t0041g0320	1	332	0.0030	-37	c.274 others(54): Show c.274-4584_274-4548delACACAGATACATTGTTACTAACTAAGGC CCTGCACCA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44114966	GTTGTTAC others(30): Show GTTGTTACTAAGTAAGGCCCTGCACCAACACAGATACA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03486.hp2 HG03579.hp2 others(1): Show HG02717.hp2 HG03486.hp2 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0042 a0001c0002t0021 a0001c0001t0009 a0001c0001t0042 a0001c0002t0021	a0001c0001t0009g0086 a0001c0001t0009g0193 a0001c0001t0042g0186 others(1): Show a0001c0001t0009g0086 a0001c0001t0009g0193 a0001c0001t0042g0186 a0001c0002t0021g0074	4	332	0.0121	-37	c.274 others(54): Show c.274-4060_274-4024delTAAGGCCCTGCACCAACACAGATACATT GTTACTAAG	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44115306	CTAAGGCC others(30): Show CTAAGGCCCTGCACCAGAACGGATACATTGTTACTAAG	C C	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	332	0.0030	-37	c.274 others(54): Show c.274-3716_274-3680delGAACGGATACATTGTTACTAAGTAAGGC CCTGCACCA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44115471	CACAGATA others(30): Show CACAGATACATTGTTACTAACTAAGGCCCTGCACCAGA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19043.hp1 HG02630.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0001 a0001c0001t0009 a0001c0002t0001	a0001c0001t0009g0154 a0001c0002t0001g0125 a0001c0001t0009g0154 a0001c0002t0001g0125	2	332	0.0060	-37	c.274 others(54): Show c.274-3564_274-3528delAGATACATTGTTACTAACTAAGGCCCTG CACCAGAAC	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44115858	TACTAAAG others(30): Show TACTAAAGCCTTGCACCAACATGGACACATCATTACTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(112): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01109.hp2 HG01167.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18955.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp2 NA19074.hp1 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0009 a0011	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015 a0002c0003 a0003c0006 a0003c0033 a0003c0034 a0005c0014 a0009c0026 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(57): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0033 a0001c0001t0038 a0001c0001t0050 a0001c0001t0057 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0081 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0015 a0001c0002t0017 a0001c0002t0021 a0001c0002t0025 a0001c0002t0039 a0001c0002t0040 a0001c0002t0044 a0001c0002t0062 a0001c0002t0066 a0001c0004t0001 a0001c0004t0005 a0001c0015t0029 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0003t0012 a0002c0003t0014 a0002c0003t0017 a0002c0003t0032 a0002c0003t0079 a0003c0006t0003 a0003c0006t0046 a0003c0033t0002 a0003c0034t0036 a0005c0014t0083 a0009c0026t0001 a0011c0010t0031	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0069 others(112): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0069 a0001c0001t0001g0096 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0273 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0002g0015 a0001c0001t0002g0068 a0001c0001t0002g0216 a0001c0001t0002g0228 a0001c0001t0002g0256 a0001c0001t0002g0272 a0001c0001t0002g0290 a0001c0001t0002g0310 a0001c0001t0003g0144 a0001c0001t0003g0328 a0001c0001t0004g0229 a0001c0001t0004g0236 a0001c0001t0004g0241 a0001c0001t0004g0269 a0001c0001t0004g0293 a0001c0001t0004g0300 a0001c0001t0005g0058 a0001c0001t0005g0227 a0001c0001t0005g0257 a0001c0001t0005g0268 a0001c0001t0005g0306 a0001c0001t0006g0187 a0001c0001t0007g0221 a0001c0001t0007g0238 a0001c0001t0007g0303 a0001c0001t0008g0013 a0001c0001t0008g0231 a0001c0001t0008g0259 a0001c0001t0009g0091 a0001c0001t0009g0154 a0001c0001t0010g0137 a0001c0001t0010g0322 a0001c0001t0011g0288 a0001c0001t0011g0296 a0001c0001t0012g0037 a0001c0001t0013g0124 a0001c0001t0013g0184 a0001c0001t0014g0109 a0001c0001t0014g0131 a0001c0001t0016g0185 a0001c0001t0016g0188 a0001c0001t0017g0081 a0001c0001t0021g0090 a0001c0001t0023g0205 a0001c0001t0024g0076 a0001c0001t0024g0181 a0001c0001t0026g0313 a0001c0001t0033g0209 a0001c0001t0038g0292 a0001c0001t0050g0218 a0001c0001t0057g0117 a0001c0001t0074g0132 a0001c0001t0076g0261 a0001c0001t0077g0307 a0001c0001t0081g0103 a0001c0002t0001g0012 a0001c0002t0001g0039 a0001c0002t0001g0055 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0224 a0001c0002t0001g0251 a0001c0002t0005g0194 a0001c0002t0006g0101 a0001c0002t0006g0134 a0001c0002t0006g0168 a0001c0002t0007g0002 a0001c0002t0009g0138 a0001c0002t0009g0191 a0001c0002t0015g0327 a0001c0002t0017g0278 a0001c0002t0021g0092 a0001c0002t0025g0100 a0001c0002t0025g0128 a0001c0002t0039g0089 a0001c0002t0040g0189 a0001c0002t0044g0018 a0001c0002t0062g0077 a0001c0002t0066g0105 a0001c0004t0001g0097 a0001c0004t0001g0180 a0001c0004t0001g0289 a0001c0004t0005g0098 a0001c0015t0029g0139 a0002c0003t0001g0047 a0002c0003t0001g0063 a0002c0003t0001g0240 a0002c0003t0003g0038 a0002c0003t0006g0112 a0002c0003t0012g0040 a0002c0003t0012g0041 a0002c0003t0014g0046 a0002c0003t0017g0242 a0002c0003t0032g0152 a0002c0003t0079g0044 a0003c0006t0003g0104 a0003c0006t0046g0318 a0003c0033t0002g0195 a0003c0034t0036g0325 a0005c0014t0083g0197 a0009c0026t0001g0277 a0011c0010t0031g0179	115	332	0.3464	-37	c.274 others(54): Show c.274-3174_274-3138delAGCCTTGCACCAACATGGACACATCATT ACTAACTAA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PASK_chr2_241101099_241154472	241105719	AGGGCTGG others(30): Show AGGGCTGGAGCCCCTCACACAGACCAGAGGTGGGGGCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01358.hp1 HG01433.hp2 others(43): Show HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02074.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp2 HG03516.hp2 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18941.hp2 NA18945.hp2 NA18947.hp1 NA18960.hp2 NA18974.hp1 NA18980.hp1 NA18981.hp1 NA18988.hp1 NA18993.hp1 NA18999.hp2 NA19064.hp1 NA19070.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19091.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0012 others(3): Show a0001 a0002 a0012 a0018 a0020 a0025	a0001c0012 a0001c0023 a0001c0025 others(11): Show a0001c0012 a0001c0023 a0001c0025 a0001c0039 a0001c0040 a0001c0042 a0001c0060 a0001c0062 a0002c0007 a0012c0035 a0012c0065 a0018c0053 a0020c0052 a0025c0061	a0001c0012t0001 a0001c0023t0001 a0001c0025t0002 others(12): Show a0001c0012t0001 a0001c0023t0001 a0001c0025t0002 a0001c0039t0001 a0001c0040t0001 a0001c0042t0001 a0001c0060t0002 a0001c0062t0002 a0002c0007t0001 a0002c0007t0002 a0012c0035t0002 a0012c0065t0002 a0018c0053t0001 a0020c0052t0002 a0025c0061t0002	a0001c0012t0001g0111 a0001c0012t0001g0112 a0001c0012t0001g0113 others(42): Show a0001c0012t0001g0111 a0001c0012t0001g0112 a0001c0012t0001g0113 a0001c0012t0001g0117 a0001c0012t0001g0155 a0001c0012t0001g0156 a0001c0012t0001g0157 a0001c0012t0001g0158 a0001c0012t0001g0159 a0001c0023t0001g0184 a0001c0023t0001g0185 a0001c0023t0001g0192 a0001c0025t0002g0070 a0001c0025t0002g0071 a0001c0025t0002g0073 a0001c0039t0001g0322 a0001c0040t0001g0323 a0001c0042t0001g0160 a0001c0060t0002g0292 a0001c0062t0002g0302 a0002c0007t0001g0022 a0002c0007t0001g0222 a0002c0007t0001g0226 a0002c0007t0001g0227 a0002c0007t0001g0228 a0002c0007t0001g0230 a0002c0007t0001g0231 a0002c0007t0001g0233 a0002c0007t0001g0234 a0002c0007t0001g0235 a0002c0007t0001g0237 a0002c0007t0001g0333 a0002c0007t0001g0334 a0002c0007t0001g0335 a0002c0007t0001g0336 a0002c0007t0001g0337 a0002c0007t0002g0258 a0002c0007t0002g0270 a0002c0007t0002g0271 a0012c0035t0002g0240 a0012c0035t0002g0241 a0012c0065t0002g0243 a0018c0053t0001g0238 a0020c0052t0002g0250 a0025c0061t0002g0314	46	376	0.1223	-37	c.81 others(46): Show c.810_*846delAGCCCCCACCTCTGGTCTGTGTGAGGGGCTCCAGCC C	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding		379		chr2	TogoVar
PATJ_chr1_61737480_62168915	61796706	CTTTCTTT others(30): Show CTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0055 a0055	a0055c0073 a0055c0073	a0055c0073t0004 a0055c0073t0004	a0055c0073t0004g0078 a0055c0073t0004g0078	1	158	0.0063	-37	c.126 others(54): Show c.1261-577_1261-541delCTTTCTTTCTTTCTTTTTCTTTCTTTCT TTCTTTTTT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	10/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAWR_chr12_79579879_79695964	79613951	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	256	0.0039	-37	c.649 others(52): Show c.649-379_649-343delAAAAAAAAATATATATATATATATATATAT ATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79613955	ATATATAT others(30): Show ATATATATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp1 HG01891.hp2 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0178 a0002c0002t0001g0229 a0002c0002t0001g0178 a0002c0002t0001g0229	2	256	0.0078	-37	c.649 others(52): Show c.649-383_649-347delAAAAAAAAAAAAATATATATATATATATAT ATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79613957	ATATATAT others(30): Show ATATATATATATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02717.hp1 NA18906.hp1 HG00639.hp2 HG02717.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0001 a0002c0002t0005	a0002c0002t0001g0228 a0002c0002t0001g0230 a0002c0002t0005g0182 a0002c0002t0001g0228 a0002c0002t0001g0230 a0002c0002t0005g0182	3	256	0.0117	-37	c.649 others(52): Show c.649-385_649-349delAAAAAAAAAAAAAAATATATATATATATAT ATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79613959	ATATATAT others(30): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02257.hp1 HG03225.hp2 HG01975.hp2 HG02257.hp1 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0017 a0002c0002t0001 a0002c0002t0017	a0002c0002t0001g0181 a0002c0002t0001g0208 a0002c0002t0017g0184 a0002c0002t0001g0181 a0002c0002t0001g0208 a0002c0002t0017g0184	3	256	0.0117	-37	c.649 others(52): Show c.649-387_649-351delAAAAAAAAAAAAAAAAATATATATATATAT ATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAX1_chr20_21700664_21723481	21718949	GTTGAGAT others(30): Show GTTGAGATATTTCTAGCCAAACGTTTGTATCTCAACCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	-37	c.43 others(48): Show c.4388_*4424delTTGAGATATTTCTAGCCAAACGTTTGTATCTCAA CCT	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		469		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721415	ATTATATA others(30): Show ATTATATATGTAATACATATATAATATATATGTAATGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG02486.hp2 others(9): Show HG02055.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02723.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0009 a0001c0001t0017 a0001c0001t0049 others(1): Show a0001c0001t0009 a0001c0001t0017 a0001c0001t0049 a0001c0004t0024	a0001c0001t0009g0013 a0001c0001t0009g0085 a0001c0001t0009g0086 others(6): Show a0001c0001t0009g0013 a0001c0001t0009g0085 a0001c0001t0009g0086 a0001c0001t0009g0087 a0001c0001t0017g0064 a0001c0001t0017g0065 a0001c0001t0049g0094 a0001c0004t0024g0066 a0001c0004t0024g0067	12	400	0.0300	-37	c.68 others(48): Show c.6854_*6890delTTATATATGTAATACATATATAATATATATGTAA TGT	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		2935		chr20	TogoVar
PBRM1_chr3_52540367_52690913	52672270	ACCCTTGT others(30): Show ACCCTTGTGATTACACTGGACCCACATGGATAATCCAG	A A	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	300	0.0033	-37	c.237 others(54): Show c.237-3662_237-3626delCTGGATTATCCATGTGGGTCCAGTGTAA TCACAAGGG	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	3/31			chr3	TogoVar
PCDH11X_chrX_91774375_92628230	91894820	GTCTGGCA others(30): Show GTCTGGCATGTAGAATGTGTTAGAACCCCAGATTGGCT	G G	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0070 a0001c0001t0030g0070	1	154	0.0065	-37	c.303 others(58): Show c.3033+15548_3033+15584delTCTGGCATGTAGAATGTGTTAGAA CCCCAGATTGGCT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10			chrX	TogoVar
PCDH15_chr10_53797771_54806231	54375780	TTTGAAAT others(30): Show TTTGAAATGGAATATATATATATAATATATAAATAAAA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01167.hp1 HG01069.hp1 HG01167.hp1	a0001 a0026 a0001 a0026	a0001c0001 a0026c0033 a0001c0001 a0026c0033	a0001c0001t0014 a0026c0033t0017 a0001c0001t0014 a0026c0033t0017	a0001c0001t0014g0067 a0026c0033t0017g0023 a0001c0001t0014g0067 a0026c0033t0017g0023	2	102	0.0196	-37	c.318 others(54): Show c.318+2965_318+3001delTTTTATTTATATATTATATATATATATT CCATTTCAA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	4/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54375780	TTTGAAAT others(30): Show TTTGAAATGGAATATATATATATAATATATAAATAAAA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0003 a0010c0010t0003	a0010c0010t0003g0061 a0010c0010t0003g0061	1	94	0.0106	-37	c.318 others(54): Show c.318+2965_318+3001delTTTTATTTATATATTATATATATATATT CCATTTCAA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	4/32			chr10	TogoVar
PCDH7_chr4_30715369_31151800	31056421	AAGGAAAG others(30): Show AAGGAAAGAAAAAGAAAGAAGGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02559.hp2 others(4): Show HG02257.hp2 HG02258.hp2 HG02559.hp2 HG03139.hp2 HG03195.hp2 HG03579.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0011 others(1): Show a0001c0001 a0001c0005 a0001c0011 a0001c0012	a0001c0001t0001 a0001c0001t0037 a0001c0001t0044 others(3): Show a0001c0001t0001 a0001c0001t0037 a0001c0001t0044 a0001c0005t0001 a0001c0011t0045 a0001c0012t0046	a0001c0001t0001g0011 a0001c0001t0001g0120 a0001c0001t0037g0074 others(4): Show a0001c0001t0001g0011 a0001c0001t0001g0120 a0001c0001t0037g0074 a0001c0001t0044g0010 a0001c0005t0001g0103 a0001c0011t0045g0214 a0001c0012t0046g0008	7	214	0.0327	-37	c.339 others(58): Show c.3392-86050_3392-86014delGGAAAGAAAAAGAAAGAAGGAAAG AAAGAAAGAAAGA	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH7_chr4_30715369_31151800	31056486	AAAGAAAG others(30): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02040.hp1 NA18968.hp2 others(4): Show HG01123.hp1 HG02040.hp1 NA18968.hp2 NA18983.hp1 NA18995.hp2 NA19000.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0001c0002t0035	a0001c0001t0002g0061 a0001c0001t0003g0073 a0001c0001t0005g0024 others(4): Show a0001c0001t0002g0061 a0001c0001t0003g0073 a0001c0001t0005g0024 a0001c0001t0005g0035 a0001c0002t0002g0138 a0001c0002t0002g0147 a0001c0002t0035g0164	7	214	0.0327	-37	c.339 others(58): Show c.3392-85986_3392-85950delAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGGGGAAG	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2			chr4	TogoVar
PCED1B_chr12_47074621_47241660	47186587	AATAATCC others(30): Show AATAATCCATATGCCAGAGTGGCATATTGTGGGGTGGC	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0253 a0001c0002t0002g0253	1	322	0.0031	-37	c.-52 others(58): Show c.-525-29626_-525-29590delTATGCCAGAGTGGCATATTGTGGG GTGGCATAATCCA	PCED1B	ENSG00000179715.13	transcript	ENST00000546455.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
PCP4L1_chr1_161253745_161290450	161281759	CGGGCAGA others(30): Show CGGGCAGAGGCGCTCCTCACATCCCGGACGGGGCGGCG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(143): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG02004.hp2 HG02015.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04199.hp2 NA18522.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp2 NA18963.hp2 NA18968.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19078.hp2 NA19081.hp1 NA19084.hp1 NA19086.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(120): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0218 a0001c0001t0001g0228 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0317 a0001c0001t0001g0322 a0001c0001t0003g0043 a0001c0001t0003g0116 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0233 a0001c0001t0005g0008 a0001c0001t0007g0168 a0001c0001t0007g0169 a0001c0001t0008g0198	146	402	0.3632	-37	c.10- others(52): Show c.10-1856_10-1820delTCACATCCCGGACGGGGCGGCGGGGCAGAG GCGCTCC	PCP4L1	ENSG00000248485.2	transcript	ENST00000504449.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PCSK2_chr20_17222040_17489578	17347855	AGAAAGAG others(30): Show AGAAAGAGGAGAGAGAAAAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG03486.hp1 others(1): Show HG02257.hp1 HG02258.hp2 HG03486.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 others(1): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0061	a0001c0001t0003g0002 a0001c0001t0009g0003 a0001c0001t0011g0021 others(1): Show a0001c0001t0003g0002 a0001c0001t0009g0003 a0001c0001t0011g0021 a0001c0001t0061g0093	4	274	0.0146	-37	c.283 others(56): Show c.283-10471_283-10435delGAAAGAGGAGAGAGAAAAAAGAAAGA AAGAAAGAAAG	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	2/11			chr20	TogoVar
PDE4D_chr5_58964038_59898726	59031362	GATATATA others(30): Show GATATATATATATATATATATATATATATATTATATAT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02717.hp2 HG02895.hp1 others(6): Show HG01891.hp1 HG02717.hp2 HG02895.hp1 HG02965.hp1 HG03130.hp2 HG03471.hp1 NA18966.hp2 NA18983.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 a0001c0001t0001 a0001c0001t0004 a0001c0001t0019	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0004g0073 a0001c0001t0019g0059	9	74	0.1216	-37	c.921 others(54): Show c.921+7460_921+7496delATATATAATATATATATATATATATATA TATATATAT	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	6/14			chr5	TogoVar
PDE4D_chr5_58964038_59898726	59172013	ATTATATA others(30): Show ATTATATATATAATAAATATATATTATATATATAATAT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	74	0.0135	-37	c.808 others(54): Show c.808+8545_808+8581delATATTATATATATAATATATATTTATTA TATATATAA	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	5/14			chr5	TogoVar
PDE6B_chr4_620573_675782	668877	GCTACCCC others(30): Show GCTACCCCATGCTATTCCCCTACCCCATGCTGCTCCCA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp2 NA19240.hp1 HG02572.hp2 HG02630.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0005 a0005c0011 a0001c0005 a0005c0011	a0001c0005t0001 a0005c0011t0001 a0001c0005t0001 a0005c0011t0001	a0001c0005t0001g0223 a0005c0011t0001g0266 a0005c0011t0001g0267 a0001c0005t0001g0223 a0005c0011t0001g0266 a0005c0011t0001g0267	3	308	0.0097	-37	c.250 others(54): Show c.2503+880_2503+916delTGCTATTCCCCTACCCCATGCTGCTCCC ACTACCCCA	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE6B_chr4_620573_675782	668886	TGCTATTC others(30): Show TGCTATTCCCCTACCCCATGCTGCTCCCACTACCCCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG00741.hp1 others(52): Show HG00099.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01099.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01517.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0013	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0017 a0001c0025 a0001c0029 a0002c0003 a0006c0013 a0013c0019	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0004 a0001c0004t0001 a0001c0005t0001 a0001c0017t0004 a0001c0025t0001 a0001c0029t0001 a0002c0003t0005 a0006c0013t0010 a0013c0019t0001	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0014 others(49): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0004g0065 a0001c0001t0004g0087 a0001c0001t0005g0167 a0001c0001t0005g0265 a0001c0001t0006g0045 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0084 a0001c0002t0004g0011 a0001c0002t0004g0029 a0001c0002t0004g0059 a0001c0002t0004g0088 a0001c0002t0004g0089 a0001c0002t0004g0090 a0001c0004t0001g0031 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0085 a0001c0004t0001g0092 a0001c0005t0001g0260 a0001c0005t0001g0261 a0001c0005t0001g0262 a0001c0017t0004g0030 a0001c0025t0001g0005 a0001c0029t0001g0026 a0002c0003t0005g0268 a0002c0003t0005g0271 a0002c0003t0005g0274 a0002c0003t0005g0275 a0002c0003t0005g0276 a0002c0003t0005g0277 a0006c0013t0010g0041 a0006c0013t0010g0042 a0013c0019t0001g0061	55	308	0.1786	-37	c.250 others(55): Show c.2503+976_2503+1012delGCTCCCACTACCCCACGCTATTCCCCT ACCCCATGCT	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDGFA_chr7_492258_524846	504709	CCCGGCCC others(30): Show CCCGGCCCTGACCCTCCGGATGGCACAGCCTCTTTGGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0008 a0001c0002t0045g0008	1	302	0.0033	-37	c.454 others(54): Show c.454-3504_454-3468delACCAAAGAGGCTGTGCCATCCGGAGGGT CAGGGCCGG	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	4/5			chr7	TogoVar
PDIA2_chr16_278164_292215	281284	GGAGGGCC others(30): Show GGAGGGCCCTAGAGGGTCAGTAGGCTTGGGGGGCCGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02572.hp1 others(14): Show HG02257.hp2 HG02280.hp1 HG02572.hp1 HG02572.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03471.hp2 HG03540.hp1 NA19030.hp2 NA20129.hp1	a0001 a0006 a0009 others(1): Show a0001 a0006 a0009 a0014	a0001c0001 a0001c0005 a0001c0012 others(3): Show a0001c0001 a0001c0005 a0001c0012 a0006c0013 a0009c0010 a0014c0021	a0001c0001t0001 a0001c0005t0001 a0001c0012t0001 others(3): Show a0001c0001t0001 a0001c0005t0001 a0001c0012t0001 a0006c0013t0001 a0009c0010t0001 a0014c0021t0001	a0001c0001t0001g0038 a0001c0001t0001g0091 a0001c0001t0001g0092 others(9): Show a0001c0001t0001g0038 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0005t0001g0026 a0001c0005t0001g0035 a0001c0012t0001g0033 a0001c0012t0001g0075 a0001c0012t0001g0076 a0001c0012t0001g0077 a0006c0013t0001g0034 a0009c0010t0001g0029 a0014c0021t0001g0031	17	436	0.0390	-37	c.-18 others(48): Show c.-1885_-1849delGAGGGCCCTAGAGGGTCAGTAGGCTTGGGGGGCC GCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding		1879		chr16	TogoVar
PDIA2_chr16_278164_292215	281308	CTTGGGGG others(30): Show CTTGGGGGGCCGCCGAGGGCCCTAGAGGGTCAGTAGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG01109.hp1 others(14): Show HG00735.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp2 HG01243.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp1 HG02109.hp1 HG02258.hp1 HG02602.hp1 HG02886.hp1 HG02965.hp1 HG06807.hp2 NA18522.hp1 NA20300.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0008	a0001c0005 a0003c0027 a0004c0004 others(2): Show a0001c0005 a0003c0027 a0004c0004 a0005c0015 a0008c0007	a0001c0005t0001 a0003c0027t0001 a0004c0004t0001 others(2): Show a0001c0005t0001 a0003c0027t0001 a0004c0004t0001 a0005c0015t0001 a0008c0007t0001	a0001c0005t0001g0035 a0003c0027t0001g0156 a0004c0004t0001g0017 others(8): Show a0001c0005t0001g0035 a0003c0027t0001g0156 a0004c0004t0001g0017 a0005c0015t0001g0002 a0005c0015t0001g0023 a0005c0015t0001g0043 a0008c0007t0001g0046 a0008c0007t0001g0048 a0008c0007t0001g0135 a0008c0007t0001g0141 a0008c0007t0001g0145	17	436	0.0390	-37	c.-18 others(48): Show c.-1861_-1825delTTGGGGGGCCGCCGAGGGCCCTAGAGGGTCAGTA GGT	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding		1855		chr16	TogoVar
PDP2_chr16_66875515_66896101	66894315	GAAAATAA others(30): Show GAAAATAAGCAAGATCATGTGGTGGCCTCAGGAAGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0043 a0001c0001t0013g0043	1	356	0.0028	-37	c.84 others(48): Show c.8442_*8478delAAAATAAGCAAGATCATGTGGTGGCCTCAGGAAG GGC	PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding		3215		chr16	TogoVar
PDS5B_chr13_32581452_32783019	32586262	TGCGCGCG others(30): Show TGCGCGCGGACGGGGCGGGGCTGAGGAGGGACGTGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18971.hp1 NA19240.hp1 NA18956.hp2 NA18971.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0003 a0001c0002t0007 a0001c0001t0004 a0001c0002t0003 a0001c0002t0007	a0001c0001t0004g0203 a0001c0002t0003g0247 a0001c0002t0007g0249 a0001c0001t0004g0203 a0001c0002t0003g0247 a0001c0002t0007g0249	3	334	0.0090	-37	c.-35 others(46): Show c.-350_-314delGCGCGCGGACGGGGCGGGGCTGAGGAGGGACGTGCG C	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding		189		chr13	TogoVar
PDZD2_chr5_31634131_32115932	32039698	CGCCTCTG others(30): Show CGCCTCTGCCCGGCCGCCCCGTCTGGGAAGTGAGGAGT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01358.hp1 HG02080.hp1 others(11): Show HG00597.hp2 HG01358.hp1 HG02080.hp1 HG02280.hp2 HG02486.hp2 HG02602.hp2 HG02647.hp1 HG02897.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp2 NA18906.hp1 NA19043.hp1 NA19043.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0017	a0001c0010 a0001c0034 a0001c0053 others(10): Show a0001c0010 a0001c0034 a0001c0053 a0002c0002 a0002c0003 a0003c0004 a0003c0008 a0004c0041 a0005c0045 a0006c0015 a0007c0013 a0008c0014 a0017c0048	a0001c0010t0015 a0001c0034t0019 a0001c0053t0001 others(11): Show a0001c0010t0015 a0001c0034t0019 a0001c0053t0001 a0002c0002t0003 a0002c0002t0018 a0002c0003t0002 a0003c0004t0011 a0003c0008t0012 a0004c0041t0031 a0005c0045t0038 a0006c0015t0040 a0007c0013t0001 a0008c0014t0001 a0017c0048t0002	a0001c0010t0015g0196 a0001c0034t0019g0212 a0001c0053t0001g0215 others(11): Show a0001c0010t0015g0196 a0001c0034t0019g0212 a0001c0053t0001g0215 a0002c0002t0003g0021 a0002c0002t0018g0158 a0002c0003t0002g0192 a0003c0004t0011g0124 a0003c0008t0012g0030 a0004c0041t0031g0114 a0005c0045t0038g0176 a0006c0015t0040g0213 a0007c0013t0001g0200 a0008c0014t0001g0159 a0017c0048t0002g0062	14	216	0.0648	-37	c.151 others(56): Show c.1519+2374_1519+2410delCCGTCTGGGAAGTGAGGAGTGCCTCT GCCCGGCCGCC	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD8_chr10_117272274_117380440	117357766	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA19083.hp2 NA18974.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0222 a0001c0001t0001g0223	2	322	0.0062	-37	c.872 others(56): Show c.872+16553_872+16589delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4			chr10	TogoVar
PDZRN4_chr12_41183320_41579745	41540866	TGTTGTTG others(30): Show TGTTGTTGTTGTTGTTGTTGTTGTTGTCCCTTTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01884.hp2 HG02257.hp1 others(13): Show HG01256.hp2 HG01884.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02698.hp1 HG03195.hp2 HG03225.hp1 HG03491.hp2 HG03492.hp1 HG03704.hp2 HG04115.hp2 NA18906.hp2 NA18998.hp2 NA19012.hp2 NA20905.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0007 a0020	a0001c0001 a0001c0013 a0002c0002 others(7): Show a0001c0001 a0001c0013 a0002c0002 a0002c0015 a0004c0003 a0004c0020 a0005c0029 a0006c0007 a0007c0014 a0020c0033	a0001c0001t0001 a0001c0013t0001 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0013t0001 a0002c0002t0001 a0002c0015t0001 a0004c0003t0001 a0004c0020t0001 a0005c0029t0001 a0006c0007t0003 a0007c0014t0001 a0020c0033t0006	a0001c0001t0001g0042 a0001c0001t0001g0064 a0001c0001t0001g0151 others(13): Show a0001c0001t0001g0042 a0001c0001t0001g0064 a0001c0001t0001g0151 a0001c0013t0001g0068 a0002c0002t0001g0179 a0002c0002t0001g0184 a0002c0015t0001g0137 a0004c0003t0001g0003 a0004c0003t0001g0115 a0004c0020t0001g0153 a0005c0029t0001g0088 a0006c0007t0003g0022 a0006c0007t0003g0033 a0007c0014t0001g0127 a0007c0014t0001g0132 a0020c0033t0006g0093	16	206	0.0777	-37	c.120 others(58): Show c.1204-11763_1204-11727delCCCTTTTCTTCGTTGTTGTTGTTG TTGTTGTTGTTGT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PELI3_chr11_66461905_66482337	66462613	CCAGCCTG others(30): Show CCAGCCTGGGCAACAAGAGCAAAACTTCGTCTCAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	396	0.0025	-37	c.-44 others(48): Show c.-4415_-4379delCAGCCTGGGCAACAAGAGCAAAACTTCGTCTCAA AAA	PELI3	ENSG00000174516.15	transcript	ENST00000320740.12	protein_coding		4291		chr11	TogoVar
PEMT_chr17_17500563_17596708	17576085	CCCCAGGA others(30): Show CCCCAGGACCACCCACTCCCCCAGCAGGATCCCCGGGA	C C	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	348	0.0029	-37	c.204 others(52): Show c.204+798_204+834delTCCCGGGGATCCTGCTGGGGGAGTGGGTGG TCCTGGG	PEMT	ENSG00000133027.18	transcript	ENST00000255389.10	protein_coding	2/6			chr17	TogoVar
PEPD_chr19_33381950_33526791	33507646	AGTCTGGT others(30): Show AGTCTGGTGGGTTTTGCTTGCAAAGGCCAGGTACTCCC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	314	0.0032	-37	c.329 others(54): Show c.329+3345_329+3381delGGGAGTACCTGGCCTTTGCAAGCAAAAC CCACCAGAC	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	3/14			chr19	TogoVar
PEX10_chr1_2398974_2417564	2412933	AGACGCTG others(30): Show AGACGCTGCAGGCCCATTTACGGCTGGGGAGACGGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	358	0.0028	-37	c.-46 others(46): Show c.-468_-432delCCTCCGTCTCCCCAGCCGTAAATGGGCCTGCAGCGT C	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		370		chr1	TogoVar
PEX14_chr1_10469950_10635758	10577544	ATATATAT others(30): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	258	0.0039	-37	c.170 others(56): Show c.170-21692_170-21656delATATATATATATATATATTTTTTTTT TTTTTTTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX14_chr1_10469950_10635758	10577550	ATATATAT others(30): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01168.hp1 HG01255.hp2 others(3): Show HG00280.hp2 HG01168.hp1 HG01255.hp2 HG02258.hp1 HG02735.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0001 a0001c0002t0001 a0001c0008t0001	a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0180 others(3): Show a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0180 a0001c0002t0001g0187 a0001c0008t0001g0182 a0001c0008t0001g0191	6	258	0.0233	-37	c.170 others(56): Show c.170-21686_170-21650delATATATATATATTTTTTTTTTTTTTT TTTTTTTTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 1847 hits)