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	status	chr	external
PCDH15_chr10_53816099_54806231	54421914	A A	ATATATAT others(31): Show ATATATATATATACACACACACTATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG03486.hp2 HG02486.hp1 HG02622.hp1 HG03486.hp2	a0004 a0008 a0030 a0004 a0008 a0030	a0004c0004 a0008c0015 a0030c0028 a0004c0004 a0008c0015 a0030c0028	a0004c0004t0005 a0008c0015t0001 a0030c0028t0001 a0004c0004t0005 a0008c0015t0001 a0030c0028t0001	a0004c0004t0005g0029 a0008c0015t0001g0032 a0030c0028t0001g0044 a0004c0004t0005g0029 a0008c0015t0001g0032 a0030c0028t0001g0044	3	94	0.0319	38	c.158 others(57): Show c.158-42973_158-42972insGTGTATATATATATATAGTGTGTGTG TATATATATATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	3/32		chr10	TogoVar
PCDH15_chr10_53816099_54806231	54587882	G G	GAACTGAC others(31): Show GAACTGACTTTAATTCTTTTATTCCCAGTGTAAATTCCA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	94	0.0106	38	c.92- others(55): Show c.92-60043_92-60006dupTGGAATTTACACTGGGAATAAAAGAATT AAAGTCAGTT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	2/32		chr10	TogoVar
PCDH15_chr10_53816099_54806231	54697655	A A	AGGAAGGA others(31): Show AGGAAGGAAGGAAGGAAGGGGAAGGGGGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG03492.hp1 others(2): Show HG00738.hp2 HG00741.hp1 HG03492.hp1 HG03942.hp1 HG04184.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0023	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0023c0048	a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 others(1): Show a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 a0023c0048t0007	a0001c0001t0001g0010 a0001c0001t0001g0036 a0003c0003t0001g0030 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0036 a0003c0003t0001g0030 a0004c0004t0001g0037 a0023c0048t0007g0002	5	94	0.0532	38	c.-28 others(57): Show c.-28-33366_-28-33365insCCCTTCCCCTTCCCCCTTCCCCTTCC TTCCTTCCTTCC	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	1/32		chr10	TogoVar
PCDH7_chr4_30715369_31151800	30739160	T T	TTTTATAT others(31): Show TTTTATATATAAAAATATATATATTTTATATATATATTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02015.hp1 HG02040.hp1 others(18): Show HG00558.hp2 HG02015.hp1 HG02040.hp1 HG02083.hp1 HG02155.hp1 HG02698.hp2 HG03017.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp2 NA18948.hp2 NA18949.hp1 NA18959.hp1 NA18982.hp1 NA18998.hp1 NA19011.hp1 NA19066.hp2 NA19079.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(6): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0014 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0019t0005	a0001c0001t0003g0100 a0001c0001t0005g0022 a0001c0001t0005g0024 others(18): Show a0001c0001t0003g0100 a0001c0001t0005g0022 a0001c0001t0005g0024 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0030 a0001c0001t0005g0034 a0001c0001t0005g0035 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0045 a0001c0001t0008g0037 a0001c0001t0008g0039 a0001c0001t0008g0044 a0001c0001t0014g0038 a0001c0001t0024g0046 a0001c0001t0025g0036 a0001c0001t0026g0029 a0001c0001t0028g0023 a0001c0019t0005g0043	21	214	0.0981	38	c.317 others(59): Show c.3174+14565_3174+14566insTTATATATAAAAATATATATATTT TATATATATATTAT	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	1/2	INFO_REALIGN_3_PRIME	chr4	TogoVar
PCDH9_chr13_66297834_67235336	67214952	A A	ATATATAT others(31): Show ATATATATATATATATATGTATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01978.hp2 HG01261.hp2 HG01978.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0028 a0001c0007t0003g0029 a0001c0007t0003g0028 a0001c0007t0003g0029	2	80	0.0250	38	c.303 others(59): Show c.3036+10452_3036+10453insCATATATATATATATATATACATA TATATATATATATA	PCDH9	ENSG00000184226.15	transcript	ENST00000377865.7	protein_coding	2/4		chr13	TogoVar
PCDHA10_chr5_140850897_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	260	0.0039	38	c.238 others(59): Show c.2389-32317_2389-32316insTATATATATATATATATATATATA TATATATATACACA	PCDHA10	ENSG00000250120.8	transcript	ENST00000307360.6	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA10_chr5_140850897_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0035 a0003c0003t0007g0035	1	260	0.0039	38	c.238 others(59): Show c.2389-32317_2389-32316insTATATATATATATATATATATATA TATATATATATACA	PCDHA10	ENSG00000250120.8	transcript	ENST00000307360.6	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA11_chr5_140863957_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0258 a0001c0001t0003g0258	1	260	0.0039	38	c.239 others(59): Show c.2392-32317_2392-32316insTATATATATATATATATATATATA TATATATATACACA	PCDHA11	ENSG00000249158.7	transcript	ENST00000398640.7	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA11_chr5_140863957_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0136 a0001c0001t0007g0136	1	260	0.0039	38	c.239 others(59): Show c.2392-32317_2392-32316insTATATATATATATATATATATATA TATATATATATACA	PCDHA11	ENSG00000249158.7	transcript	ENST00000398640.7	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA12_chr5_140870308_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	260	0.0039	38	c.236 others(59): Show c.2368-32317_2368-32316insTATATATATATATATATATATATA TATATATATACACA	PCDHA12	ENSG00000251664.5	transcript	ENST00000398631.3	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA12_chr5_140870308_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0007 a0006c0009t0007	a0006c0009t0007g0140 a0006c0009t0007g0140	1	260	0.0039	38	c.236 others(59): Show c.2368-32317_2368-32316insTATATATATATATATATATATATA TATATATATATACA	PCDHA12	ENSG00000251664.5	transcript	ENST00000398631.3	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA13_chr5_140877124_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0101 a0001c0002t0003g0101	1	260	0.0039	38	c.239 others(59): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATACACA	PCDHA13	ENSG00000239389.8	transcript	ENST00000289272.3	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA13_chr5_140877124_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0149 a0001c0001t0005g0149	1	260	0.0039	38	c.239 others(59): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATATACA	PCDHA13	ENSG00000239389.8	transcript	ENST00000289272.3	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA1_chr5_140781140_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0185 a0002c0002t0003g0185	1	200	0.0050	38	c.239 others(59): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATACACA	PCDHA1	ENSG00000204970.10	transcript	ENST00000504120.4	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA1_chr5_140781140_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0090 a0001c0001t0011g0090	1	200	0.0050	38	c.239 others(59): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATATACA	PCDHA1	ENSG00000204970.10	transcript	ENST00000504120.4	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA2_chr5_140789852_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0084 a0003c0004t0003g0084	1	202	0.0050	38	c.238 others(59): Show c.2389-32317_2389-32316insTATATATATATATATATATATATA TATATATATACACA	PCDHA2	ENSG00000204969.7	transcript	ENST00000526136.2	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA2_chr5_140789852_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0112 a0001c0001t0007g0112	1	202	0.0050	38	c.238 others(59): Show c.2389-32317_2389-32316insTATATATATATATATATATATATA TATATATATATACA	PCDHA2	ENSG00000204969.7	transcript	ENST00000526136.2	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA3_chr5_140796057_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0109 a0003c0004t0003g0109	1	208	0.0048	38	c.239 others(59): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATACACA	PCDHA3	ENSG00000255408.4	transcript	ENST00000522353.3	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA3_chr5_140796057_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0095 a0001c0001t0008g0095	1	208	0.0048	38	c.239 others(59): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATATACA	PCDHA3	ENSG00000255408.4	transcript	ENST00000522353.3	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA4_chr5_140802068_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0003 a0016c0019t0003	a0016c0019t0003g0211 a0016c0019t0003g0211	1	212	0.0047	38	c.238 others(59): Show c.2386-32317_2386-32316insTATATATATATATATATATATATA TATATATATACACA	PCDHA4	ENSG00000204967.13	transcript	ENST00000530339.2	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA4_chr5_140802068_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0111 a0003c0003t0009g0111	1	212	0.0047	38	c.238 others(59): Show c.2386-32317_2386-32316insTATATATATATATATATATATATA TATATATATATACA	PCDHA4	ENSG00000204967.13	transcript	ENST00000530339.2	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA5_chr5_140816613_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0172 a0005c0005t0005g0172	1	220	0.0046	38	c.235 others(59): Show c.2353-32317_2353-32316insTATATATATATATATATATATATA TATATATATACACA	PCDHA5	ENSG00000204965.9	transcript	ENST00000529859.2	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA5_chr5_140816613_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0011 a0008c0010t0011	a0008c0010t0011g0050 a0008c0010t0011g0050	1	220	0.0046	38	c.235 others(59): Show c.2353-32317_2353-32316insTATATATATATATATATATATATA TATATATATATACA	PCDHA5	ENSG00000204965.9	transcript	ENST00000529859.2	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA6_chr5_140822960_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0129 a0004c0005t0003g0129	1	236	0.0042	38	c.239 others(59): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATACACA	PCDHA6	ENSG00000081842.18	transcript	ENST00000529310.6	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA6_chr5_140822960_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0003 a0002c0003t0007g0003	1	236	0.0042	38	c.239 others(59): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATATACA	PCDHA6	ENSG00000081842.18	transcript	ENST00000529310.6	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA7_chr5_140829269_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0138 a0001c0002t0003g0138	1	248	0.0040	38	c.235 others(59): Show c.2356-32317_2356-32316insTATATATATATATATATATATATA TATATATATACACA	PCDHA7	ENSG00000204963.6	transcript	ENST00000525929.2	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA7_chr5_140829269_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0007 a0004c0005t0007	a0004c0005t0007g0111 a0004c0005t0007g0111	1	248	0.0040	38	c.235 others(59): Show c.2356-32317_2356-32316insTATATATATATATATATATATATA TATATATATATACA	PCDHA7	ENSG00000204963.6	transcript	ENST00000525929.2	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA8_chr5_140836187_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0003 a0007c0007t0003	a0007c0007t0003g0136 a0007c0007t0003g0136	1	258	0.0039	38	c.239 others(59): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATACACA	PCDHA8	ENSG00000204962.6	transcript	ENST00000531613.2	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA8_chr5_140836187_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0022 a0003c0003t0006g0022	1	258	0.0039	38	c.239 others(59): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATATACA	PCDHA8	ENSG00000204962.6	transcript	ENST00000531613.2	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA9_chr5_140843382_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0252 a0005c0006t0003g0252	1	256	0.0039	38	c.239 others(59): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATACACA	PCDHA9	ENSG00000204961.7	transcript	ENST00000532602.2	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHA9_chr5_140843382_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0125 a0003c0004t0007g0125	1	256	0.0039	38	c.239 others(59): Show c.2395-32317_2395-32316insTATATATATATATATATATATATA TATATATATATACA	PCDHA9	ENSG00000204961.7	transcript	ENST00000532602.2	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHAC1_chr5_140921299_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0207 a0001c0002t0005g0207	1	280	0.0036	38	c.243 others(59): Show c.2433+17307_2433+17308insTATATATATATATATATATATATA TATATATATACACA	PCDHAC1	ENSG00000248383.5	transcript	ENST00000253807.3	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHAC1_chr5_140921299_141017347	140946631	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0220 a0001c0004t0009g0220	1	280	0.0036	38	c.243 others(59): Show c.2433+17307_2433+17308insTATATATATATATATATATATATA TATATATATATACA	PCDHAC1	ENSG00000248383.5	transcript	ENST00000253807.3	protein_coding	1/3	INFO_REALIGN_3_PRIME	chr5	TogoVar
PCLO_chr7_82749012_83167884	83134242	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03492.hp1 HG03654.hp1 HG03492.hp1 HG03654.hp1	a0025 a0072 a0025 a0072	a0025c0012 a0072c0032 a0025c0012 a0072c0032	a0025c0012t0001 a0072c0032t0004 a0025c0012t0001 a0072c0032t0004	a0025c0012t0001g0155 a0072c0032t0004g0177 a0025c0012t0001g0155 a0072c0032t0004g0177	2	188	0.0106	38	c.330 others(51): Show c.3300+7_3300+8insTTATATATATATATATATATATATATATATAT ATATAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24		chr7	TogoVar
PCNX1_chr14_70902459_71120382	70910058	T T	TCCCCCCC others(31): Show TCCCCCCCTCCTCCCCCTCCTCCCCCTCCTCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	352	0.0028	38	c.153 others(55): Show c.153+2057_153+2058insCCCCCTCCTCCCCCTCCTCCCCCTCCTC CTCCTCCCCC	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	1/35	INFO_REALIGN_3_PRIME	chr14	TogoVar
PCNX1_chr14_70902459_71120382	70994396	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0206 a0001c0001t0010g0206	1	352	0.0028	38	c.244 others(57): Show c.2445-1311_2445-1310insATATATATATATATATATATATATAT ATATATATATAT	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	7/35	INFO_REALIGN_3_PRIME	chr14	TogoVar
PCP4L1_chr1_161253745_161290450	161278981	C C	CCATGTTG others(31): Show CCATGTTGCCCAGGCTGGTCTCAAACTCCTGGACTCAAG	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	402	0.0025	38	c.10- others(53): Show c.10-4684_10-4647dupTGTTGCCCAGGCTGGTCTCAAACTCCTGGA CTCAAGCA	PCP4L1	ENSG00000248485.2	transcript	ENST00000504449.2	protein_coding	1/2	INFO_REALIGN_3_PRIME	chr1	TogoVar
PCSK2_chr20_17222040_17489578	17333910	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	274	0.0037	38	c.283 others(57): Show c.283-24391_283-24390insATATATATATATATATATATATATAT ATATATATATAT	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	2/11	INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK2_chr20_17222040_17489578	17449526	G G	GTGTATAT others(31): Show GTGTATATATATATATATATATGTATGTATGTATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG03195.hp1 HG01891.hp1 HG02258.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0061 a0001c0001t0011 a0001c0001t0061	a0001c0001t0011g0008 a0001c0001t0011g0150 a0001c0001t0061g0093 a0001c0001t0011g0008 a0001c0001t0011g0150 a0001c0001t0061g0093	3	274	0.0110	38	c.886 others(55): Show c.886-4215_886-4214insGTATATATATATATATATATGTATGTAT GTATATATAT	PCSK2	ENSG00000125851.10	transcript	ENST00000262545.7	protein_coding	8/11	INFO_REALIGN_3_PRIME	chr20	TogoVar
PCSK5_chr9_75885673_76367975	75903574	G G	GTGTGTGT others(31): Show GTGTGTGTATATATATATATATAATATATATTATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0026 a0026	a0026c0030 a0026c0030	a0026c0030t0022 a0026c0030t0022	a0026c0030t0022g0128 a0026c0030t0022g0128	1	166	0.0060	38	c.192 others(57): Show c.192+12202_192+12203insGTGTGTATATATATATATATAATATA TATTATATATAT	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	1/37	INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101412691	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0062 a0004c0014t0001g0062	1	336	0.0030	38	c.824 others(57): Show c.824-14116_824-14115insTATATATATATATATATATATATATA TATATATATATA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	6/21		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101412712	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0002 a0006c0021t0002	a0006c0021t0002g0002 a0006c0021t0002g0002	1	336	0.0030	38	c.824 others(57): Show c.824-14137_824-14136insTTATATATATATATATATATATATAT ATATATATATAT	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	6/21		chr15	TogoVar
PCSK7_chr11_117199337_117237073	117215364	T T	TTTTGTGT others(31): Show TTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0297 a0001c0001t0007g0297	1	460	0.0022	38	c.153 others(57): Show c.1534+3101_1534+3102insCACACACACACACACACACACACACA CACACACACAAA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16		chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0386 a0001c0001t0007g0386	1	460	0.0022	38	c.153 others(57): Show c.1534+3085_1534+3086insTATATATATATATATATATATATACA CACACACACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16		chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02004.hp1 HG02723.hp2 others(8): Show HG00609.hp2 HG02004.hp1 HG02723.hp2 HG03209.hp1 NA18954.hp1 NA18971.hp1 NA19056.hp1 NA19066.hp2 NA19074.hp2 NA19085.hp2 NA20905.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0030 a0001c0001 a0008c0030	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0008c0030t0020	a0001c0001t0002g0071 a0001c0001t0002g0091 a0001c0001t0002g0196 others(8): Show a0001c0001t0002g0071 a0001c0001t0002g0091 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0385 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0156 a0001c0001t0003g0280 a0001c0001t0004g0383 a0008c0030t0020g0318	11	460	0.0239	38	c.153 others(57): Show c.1534+3085_1534+3086insTATATATATATATATATATATACACA CACACACACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16		chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG04228.hp1 NA18942.hp2 others(1): Show HG02040.hp2 HG04228.hp1 NA18942.hp2 NA19054.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0003 a0004c0013t0002 a0001c0001t0003 a0004c0013t0002	a0001c0001t0003g0045 a0001c0001t0003g0052 a0001c0001t0003g0109 others(1): Show a0001c0001t0003g0045 a0001c0001t0003g0052 a0001c0001t0003g0109 a0004c0013t0002g0320	4	460	0.0087	38	c.153 others(57): Show c.1534+3085_1534+3086insTATATATATATATATATATACACACA CACACACACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16		chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03490.hp1 HG00733.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0249 a0001c0002t0001g0288 a0001c0001t0002g0249 a0001c0002t0001g0288	2	460	0.0044	38	c.153 others(57): Show c.1534+3085_1534+3086insTATATATATATATATATACACACACA CACACACACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16		chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02015.hp2 HG01106.hp1 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0337 a0001c0002t0001g0287 a0001c0001t0003g0337 a0001c0002t0001g0287	2	460	0.0044	38	c.153 others(57): Show c.1534+3085_1534+3086insTATATATATATATATACACACACACA CACACACACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16		chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0377 a0001c0007t0004g0377	1	460	0.0022	38	c.153 others(57): Show c.1534+3085_1534+3086insTATATACACACACACACACACACACA CACACACACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16		chr11	TogoVar
PCSK7_chr11_117199337_117237073	117215380	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0177 a0001c0001t0007g0177	1	460	0.0022	38	c.153 others(57): Show c.1534+3085_1534+3086insTATACACACACACACACACACACACA CACACACACACA	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding	12/16		chr11	TogoVar

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