Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
IL19_chr1_206765773_206847981	206781885	ATGTATAT others(173): Show ATGTATATAGTTATATATACATATATATGTATATAGTTATATATACATAT ATATGTATATAGTTATATATACATATATATGTATATGTTATATATACATA TATATGTATATGTTATATATACATATATATGTATATAGTTATATATACAT ATATATGTATATAGTTATATATACATATATG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03139.hp1 HG03195.hp2 others(3): Show HG02922.hp1 HG03139.hp1 HG03195.hp2 HG03486.hp2 NA18522.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0002c0002t0006 a0001c0001t0001 a0001c0001t0006 a0002c0002t0006	a0001c0001t0001g0042 a0001c0001t0006g0043 a0001c0001t0006g0045 others(2): Show a0001c0001t0001g0042 a0001c0001t0006g0043 a0001c0001t0006g0045 a0001c0001t0006g0046 a0002c0002t0006g0002	6	366	0.0164	-180	c.-14 others(21): Show c.-149+10812_-149+10991del		IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
IL3RA_chrX_1331785_1387689	1367113	AGCGGGGT others(173): Show AGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGG GGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCCGGGTGAGCGGGGTGA GCGGGGTGAGCCGGGTGCGCGGGGTGCGCGGGGTGCGCCGGGTGCGCGGG GTGAGCCGGGTGCGCGGGGTGAGCGGGGTGC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	115	0.0087	-180	c.874 others(17): Show c.874+1879_874+2058del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1367158	CGCGGGGT others(173): Show CGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCCGGGTGAGCGG GGTGAGCGGGGTGAGCCGGGTGCGCGGGGTGCGCGGGGTGCGCCGGGTGC GCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGG GTGCGCGGGGTGAGCCGGGTGCGCGGGGTGA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0080 a0001c0001t0006g0080	1	115	0.0087	-180	c.874 others(17): Show c.874+1924_874+2103del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IMMP2L_chr7_110657644_111567492	110896484	ATCCATTT others(173): Show ATCCATTTTCAATTGGATTGTTTGTCTTTTTTAAAAATCATTTCATTATA TATGCAACATCTGTACAACATTTACCCCCCATAGATACTGTTAATCTGTT GACTTCTGTATTTGTGGCACATTTTGCCTTTCAAAAATTTTTAATTTCAA AATACTGAGGTATTTTCGTATGTTATTTTAC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01071.hp1 HG01071.hp2 others(69): Show HG00438.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0013 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(69): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0004g0043 a0001c0001t0004g0054 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0063 a0001c0001t0005g0068 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0077 a0001c0001t0006g0042 a0001c0001t0006g0059 a0001c0001t0007g0069 a0001c0001t0007g0070 a0001c0001t0007g0072 a0001c0001t0008g0078 a0001c0001t0008g0079 a0001c0001t0008g0080 a0001c0001t0009g0081 a0001c0001t0009g0082 a0001c0001t0009g0084 a0001c0001t0011g0002 a0001c0001t0011g0025 a0001c0001t0012g0006 a0001c0001t0014g0067 a0001c0001t0015g0071 a0001c0001t0016g0076 a0001c0001t0017g0083 a0001c0002t0002g0066 a0001c0002t0004g0044 a0001c0002t0004g0055 a0001c0002t0004g0056 a0001c0002t0004g0058 a0001c0002t0006g0065 a0001c0002t0013g0057 a0002c0003t0002g0051	72	84	0.8571	-180	c.306 others(17): Show c.306-9969_306-9790del		IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	4/5						chr7	TogoVar
KCNG2_chr18_79792938_79905100	79807749	TGCCCAGA others(173): Show TGCCCAGAGTCCTCGCCCTGAGGAGCTGCCGGGGCCGCGCTGACCACACT CCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCGCGC TGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCC GGGGCCGCGCTGACCACACTCCACGTTATGG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02559.hp1 others(8): Show HG01069.hp2 HG01071.hp2 HG02559.hp1 HG02630.hp1 HG02723.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0222 others(8): Show a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0292 a0001c0005t0001g0217 a0001c0005t0001g0231	11	312	0.0353	-180	c.-11 others(20): Show c.-115+9853_-115+10032del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79808071	GAGCTGCC others(173): Show GAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCAGAGTCC GCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGG CCCAGAGTCCTCGCCCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCC ACGTTATGGGCCCAGAGTCCGCGCTCTGAGA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0282 a0001c0001t0001g0283	2	312	0.0064	-180	c.-11 others(21): Show c.-115+10069_-115+10248del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79808927	ACTGACCA others(173): Show ACTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTG CCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTC TGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGA GTCCGCGCTCTGAGGAGCTGCCGGGGCCTCG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0282 a0001c0001t0001g0283	2	312	0.0064	-180	c.-11 others(21): Show c.-115+10971_-115+11150del		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
LIPG_chr18_49557057_49604185	49579001	GGGGAGAG others(173): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA21309.hp2 HG03225.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0095 a0001c0001t0077 a0001c0001t0095	a0001c0001t0077g0031 a0001c0001t0095g0026 a0001c0001t0077g0031 a0001c0001t0095g0026	2	384	0.0052	-180	c.794 others(17): Show c.794-2356_794-2177del		LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
LMX1A_chr1_165196867_165361715	165328506	TGAACTAT others(173): Show TGAACTATGTGGTCCACCCAACAGGGCCATATTTACAATGCACCTGTGCC CTTGATGGCTGGCATCCTGCTGGAGGCACAGCAGCATGAGTGAGACTCAG GGAGGTGGACCAACAGAGAGATTCAGCCCCATCCAACTCAGTCATATTCA CAGAGGCACAACTAGAATAAAACATGAAGCA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0222 a0001c0001t0015g0222	1	288	0.0035	-180	c.263 others(19): Show c.263+24390_263+24569del		LMX1A	ENSG00000162761.14	transcript	ENST00000342310.7	protein_coding	3/8						chr1	TogoVar
LRCH3_chr3_197786254_197893436	197869522	GTGCACTG others(173): Show GTGCACTGTACCTGCAGGAGGTAGAAAGCGATGCACTGTACCTGCAGGAG GTAGAAAGCGATGCACTGTACCTGCAGGAAGTAGAAAGCGATACACTGTA CCTGCAGGAGGTAGAAAGCCATGCAGTGTACCTGCAGGAGGTAGAAAGCC ATGCAGTGTACCTGCAGGAGGTAGAAAGCGA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG04228.hp2 NA18612.hp1 others(5): Show HG03017.hp1 HG04228.hp2 NA18612.hp1 NA18943.hp2 NA18954.hp2 NA18966.hp2 NA18970.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0010 a0001c0002t0025 others(2): Show a0001c0001t0010 a0001c0002t0010 a0001c0002t0025 a0001c0002t0050 a0001c0002t0052	a0001c0001t0010g0012 a0001c0001t0010g0015 a0001c0002t0010g0017 others(5): Show a0001c0001t0010g0012 a0001c0001t0010g0015 a0001c0002t0010g0017 a0001c0002t0010g0159 a0001c0002t0010g0177 a0001c0002t0025g0131 a0001c0002t0050g0226 a0001c0002t0052g0221	8	292	0.0274	-180	c.187 others(17): Show c.1874-559_1874-380del		LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	17/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
LRP5_chr11_68307591_68454275	68348362	CCGTGGGG others(173): Show CCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTGACTCT GAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAACCCCAGCACTCG GTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACC CCAGCACTCGGTGCGACTCTGAAAATGAACT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG01081.hp2 others(23): Show HG00140.hp2 HG01070.hp2 HG01081.hp2 HG01167.hp1 HG01169.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01433.hp2 HG01981.hp2 HG02109.hp2 HG02145.hp1 HG02148.hp1 HG02572.hp2 HG02622.hp1 HG02818.hp1 HG03195.hp1 HG03579.hp2 NA18941.hp1 NA18942.hp1 NA18946.hp2 NA18952.hp2 NA18991.hp1 NA19084.hp2 NA20752.hp2 NA21309.hp2	a0001 a0003 a0009 others(2): Show a0001 a0003 a0009 a0013 a0015	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0029 a0001c0046 a0003c0006 a0003c0014 a0003c0016 a0009c0048 a0013c0032 a0015c0039	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0007t0001 a0001c0029t0001 a0001c0046t0001 a0003c0006t0001 a0003c0014t0001 a0003c0016t0001 a0009c0048t0001 a0013c0032t0001 a0015c0039t0001	a0001c0001t0001g0088 a0001c0001t0001g0135 a0001c0001t0001g0136 others(23): Show a0001c0001t0001g0088 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0175 a0001c0002t0001g0009 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0195 a0001c0004t0001g0124 a0001c0004t0001g0210 a0001c0007t0001g0152 a0001c0029t0001g0117 a0001c0046t0001g0137 a0003c0006t0001g0023 a0003c0014t0001g0006 a0003c0016t0001g0027 a0009c0048t0001g0185 a0013c0032t0001g0186 a0015c0039t0001g0190	26	212	0.1226	-180	c.488 others(15): Show c.488+134_488+313del		LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr11	TogoVar
MAD1L1_chr7_1810795_2237945	1882941	CCAAACCT others(173): Show CCAAACCTGGTGTCACAAACGACTCCAGGAACCAGCTCCTTATCACCAAA CCTCGTGCCACAAACGGCCCCAGGAACCAGCTCTTTAACACCAAACCTGG TGTCACAAACGACTCCAGGAACCAGCTCCTTATTACCAAACCTCGTGCCA CAAATGGCCCCAGGAACCAGCTCTTTAACAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00735.hp2 others(5): Show HG00639.hp1 HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01099.hp2 HG01975.hp2 HG02293.hp1 HG02300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0003 a0001c0004t0001 a0001c0004t0003	a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0004t0001g0094 others(5): Show a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0003g0116 a0001c0004t0003g0117 a0001c0004t0003g0118 a0001c0004t0003g0119 a0001c0004t0003g0180	8	264	0.0303	-180	c.199 others(21): Show c.1998+15079_1998+15258del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18						chr7	TogoVar
MBD3L4_chr19_7032749_7045179	7035806	ATATATAA others(173): Show ATATATAATATAATTATATAACATATAAATTATATTATATATATAATATA ATTATATAACATATAAATTATATTATATATAATATAATTCTATAACATAT AAATTATATTATATATAATATAATTATATAACATATAAATTATATTATAT ATAATATAATTATATAACATATAAATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0002 a0011c0020t0002	a0011c0020t0002g0043 a0011c0020t0002g0043	1	262	0.0038	-180	c.18 others(11): Show c.1875_*2054del		MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding					1942		chr19	TogoVar
MELTF_chr3_196996740_197034817	197032798	ACTCTTGC others(173): Show ACTCTTGCTGACTGGTTGGGACATGAGCACCTGCAGTAGTGTGATGTCAG AGGATGTTACACTCTTGCTGATGGGTTGGGTGTGAGCACCTGAAGTAGTG TGATGTCAGAAGATTTTACACTCTTGCTGACTGGTTGGGGTGTGAGCACC TGCAGTAGTGTGATGTCAGAGGATGTTACCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0166 a0001c0002t0015g0166	1	420	0.0024	-180	c.-32 others(11): Show c.-3276_-3097del		MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding					2982		chr3	TogoVar
MELTF_chr3_196996740_197034817	197032870	GGGTTGGG others(173): Show GGGTTGGGTGTGAGCACCTGAAGTAGTGTGATGTCAGAAGATTTTACACT CTTGCTGACTGGTTGGGGTGTGAGCACCTGCAGTAGTGTGATGTCAGAGG ATGTTACCTCTCTTGCTGACTGGTTGGGGTGTGAGCACCTGCAGTCGTGT GATGTCAGAAGATTTTACACTCTTGCTGACT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0240 a0001c0001t0019g0240	1	420	0.0024	-180	c.-33 others(11): Show c.-3348_-3169del		MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding					3054		chr3	TogoVar
MGAM_chr7_141990879_142111747	142044665	TATACACG others(173): Show TATACACGTGTAATATATGATGTATAATGAATATTATATACACGTGTAAT ATATGATGTATAATGAATATTATATACACGTGTAATATATGATATATAAT GTATATTATATACACGTGTAATATATGATATATAATGTATATTATATACA CGTGTAATATATGATATATAATGTATATTAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03130.hp1 NA19043.hp2 HG02886.hp2 HG03130.hp1 NA19043.hp2	a0064 a0065 a0066 a0064 a0065 a0066	a0064c0138 a0065c0112 a0066c0137 a0064c0138 a0065c0112 a0066c0137	a0064c0138t0002 a0065c0112t0001 a0066c0137t0001 a0064c0138t0002 a0065c0112t0001 a0066c0137t0001	a0064c0138t0002g0034 a0065c0112t0001g0244 a0066c0137t0001g0035 a0064c0138t0002g0034 a0065c0112t0001g0244 a0066c0137t0001g0035	3	316	0.0095	-180	c.249 others(19): Show c.2499-3099_2499-2920del		MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70					INFO_REALIGN_3_PRIME	chr7	TogoVar
MPPED1_chr22_43407014_43512848	43496684	GGTGGTGG others(173): Show GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGAAG TGGTGGTGGTGGAGGTAGTGGTGGTGGTGATGGTGGTGGTGGAGGTGGTG GTGGAGGTGGTGGTGGCGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTAGTGGTGGTGGAGGTA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0160 a0001c0003t0010g0160	1	250	0.0040	-180	c.633 others(17): Show c.633-1540_633-1361del		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500082	GTGATGGC others(173): Show GTGATGGCGATGGAGGTGGTAGTGGGGGTGATGAAGGTGGTGATGGAGGT GGTAATGGAGGTGGTGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGG TGATGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGTGGAGGTG GTGATGGAGGTGGCAGTGATGATGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0247 a0001c0002t0005g0247	1	250	0.0040	-180	c.748 others(17): Show c.748+1735_748+1914del		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MSI1_chr12_120336330_120374164	120352614	TGAACAGC others(173): Show TGAACAGCCCTGAGGCAGAGGATGTAAGTGCTTAGGGGCCCTCCAAATAA ATAAGACCCCCAAGTAAATAAATAAATAAATGGCCTTGCAAAAGTTTGTA TTTCTTATTTCAAAGAAAACTGCATTGAATAGTCATCATGGGAAGTCCAG AACTGGGCTTCCTGACATTTACTTTCAGGTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0224 a0001c0001t0019g0224	1	348	0.0029	-180	c.733 others(15): Show c.733+505_733+684del		MSI1	ENSG00000135097.7	transcript	ENST00000257552.7	protein_coding	10/14						chr12	TogoVar
MYT1_chr20_64159452_64247253	64187238	CATGGAGA others(173): Show CATGGAGACTTTTCCTGTAGCCTGTGGCCCCGGCATCCATGTTTCCGTGG AGAGTTTTCCTGTAGCACGTGGCTCCGGCATCCACGTTTCCGTGGAGAGT TTTCCTGTAGCCTGTGGCCCCGGCATCCACGTTTCCGTGGAGAGTTTTCC TGTGGCACGTGGCCCCGGCATCCACGTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03491.hp1 HG01884.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0221 a0001c0001t0002g0214 a0001c0001t0001g0221 a0001c0001t0002g0214	2	223	0.0090	-180	c.-98 others(17): Show c.-98-2824_-98-2645del		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22						chr20	TogoVar
NDC80_chr18_2566557_2621635	2614441	AAGAAAGA others(173): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	402	0.0025	-180	c.179 others(19): Show c.1792-1994_1792-1815del		NDC80	ENSG00000080986.13	transcript	ENST00000261597.9	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr18	TogoVar
NEU4_chr2_241804193_241822413	241806161	CCCCTCAG others(173): Show CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG02155.hp2 HG03130.hp2 others(1): Show HG01261.hp2 HG02155.hp2 HG03130.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0003 a0001c0015t0001 a0001c0001t0001 a0001c0001t0003 a0001c0015t0001	a0001c0001t0001g0163 a0001c0001t0003g0010 a0001c0001t0003g0094 others(1): Show a0001c0001t0001g0163 a0001c0001t0003g0010 a0001c0001t0003g0094 a0001c0015t0001g0052	4	319	0.0125	-180	c.-31 others(11): Show c.-3116_-2937del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3031		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79521116	GGGCGTCT others(173): Show GGGCGTCTGCTGATGTGTGTGTCTGTGTGTGTGTGTAGGGGGGGAGCATC CACTGATGTGTGTCCATGTGTGTGTGGGGGCATCAGCTGATATGTGTGTC TGTGTGTGGGGGGTGGAGCATCCACTGATGTGTGTCCATGTGTGTGTGGG GGCATCCGCTGATGTGTGTGTCTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02155.hp2 NA20300.hp1 others(1): Show HG01261.hp1 HG02155.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0015 a0002c0002 a0003c0007 a0001c0015 a0002c0002 a0003c0007	a0001c0015t0021 a0002c0002t0001 a0003c0007t0008 a0001c0015t0021 a0002c0002t0001 a0003c0007t0008	a0001c0015t0021g0238 a0002c0002t0001g0220 a0003c0007t0008g0017 others(1): Show a0001c0015t0021g0238 a0002c0002t0001g0220 a0003c0007t0008g0017 a0003c0007t0008g0019	4	322	0.0124	-180	c.278 others(19): Show c.2783-6409_2783-6230del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NKD1_chr16_50543396_50654249	50563261	TCCTGTGT others(173): Show TCCTGTGTGTCAGGCTAAACTCCATCCTCAGTGGGCACAGTCCTGGACCC ATGGAGAAGACCCTGTGTGTCAGGCTAAACTCCATCCTCAATGGGCACAG CCCTAGATGCATGGAGAAGACCCTGTGTGTCAGGCTAAACTCCATCCTCA GTGGGCACAGCCCTGGACCCATGGAGAAGAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0194 a0001c0001t0004g0194	1	212	0.0047	-180	c.192 others(19): Show c.192+13742_192+13921del		NKD1	ENSG00000140807.7	transcript	ENST00000268459.6	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr16	TogoVar
NKX1-1_chr4_1397932_1411442	1398257	AGGGTGTT others(173): Show AGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCCGGGT GTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTT CGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGC ATCTGGATGTGGGTAGATCAGGTTGGATGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG03130.hp2 HG01884.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	2	382	0.0052	-180	c.44 others(11): Show c.4495_*4674del		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4674		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398283	AGTAGATC others(173): Show AGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAG GTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCCGGGTGTTTTCGGGCATCTGGATGTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	382	0.0026	-180	c.44 others(11): Show c.4469_*4648del		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4648		chr4	TogoVar
NLRP4_chr19_55831540_55886855	55849954	ACTGCGGT others(173): Show ACTGCGGTGTAATTTCCGTAGCTGCGGTGTAATTTCCGAGACTGCGGTGT GATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGTA GCTGCGGTGGAATTTCCGAGACTGCGGTGTAATTTCCGTGGCTGCGGTGT AATTACCGTAGCTGCGGTGTAATTTCCGTGG	A A	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0176 a0002c0003t0001g0176	1	424	0.0024	-180	c.-65 others(17): Show c.-65-2044_-65-1865del		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NME7_chr1_169127531_169372797	169342547	ATATATAT others(173): Show ATATATATATATACAAGTACATATATATAGTATATATATATATACAAGTA CATATATATAGTATATATATATACAAGTACATATATATAGTATATATATA TACAAGTACATATATATATAGTATATATATATACAAGTACATATATATAG TATATATATATACAAGTACATATATATATAG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02109.hp2 HG00673.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0081 a0001c0002t0001g0260 a0001c0001t0002g0081 a0001c0002t0001g0260	2	302	0.0066	-180	c.4-1 others(15): Show c.4-18227_4-18048del		NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11						chr1	TogoVar
NME7_chr1_169127531_169372797	169342597	CATATATA others(173): Show CATATATATAGTATATATATATACAAGTACATATATATAGTATATATATA TACAAGTACATATATATATAGTATATATATATACAAGTACATATATATAG TATATATATATACAAGTACATATATATATAGTATATATATATACAAGTAC ATATATATAGTATATATATATACAAGTACAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(60): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG01168.hp2 HG01169.hp2 HG01361.hp1 HG01496.hp2 HG01975.hp2 HG02056.hp1 HG02074.hp1 HG02129.hp1 HG02135.hp2 HG02258.hp2 HG02293.hp1 HG02523.hp1 HG02683.hp1 HG02738.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18947.hp2 NA18950.hp2 NA18960.hp2 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18972.hp1 NA18974.hp1 NA18980.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19006.hp1 NA19009.hp1 NA19011.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19090.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0006t0002	a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0109 others(60): Show a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0142 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0002t0001g0091 a0001c0006t0002g0127	63	302	0.2086	-180	c.4-1 others(15): Show c.4-18277_4-18098del		NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11						chr1	TogoVar
NXNL1_chr19_17450425_17465926	17463767	TGAAAGGA others(173): Show TGAAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAA GAAGAAAAGAAGAAGAAGAAAAGAAGAAGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	408	0.0025	-180	c.-30 others(11): Show c.-3078_-2899del		NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding					2842		chr19	TogoVar
OGFR_chr20_62799835_62819000	62813253	AGCAGGAC others(173): Show AGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACCCCAG GCCCCCGCCCGGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCG GAGACCCCAGGCCCCAGCCCGGCAGGACCTACAAGGGATGAGCCAGCCGA GAGCCCATCGGAGACCCCAGGCCCCCGCCCG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02055.hp2 HG02055.hp2	a0030 a0030	a0030c0053 a0030c0053	a0030c0053t0001 a0030c0053t0001	a0030c0053t0001g0121 a0030c0053t0001g0121	1	422	0.0024	-180	c.178 others(9): Show c.1786_1965del	p.Glu others(13): Show p.Glu596_Ala655del	OGFR	ENSG00000060491.17	transcript	ENST00000290291.10	protein_coding	7/7	1811/2410	1786/2034	596/677		INFO_REALIGN_3_PRIME	chr20	TogoVar
OR2T11_chr1_248618557_248640091	248637691	TACAGACA others(173): Show TACAGACAGGCAGGACTCATGGTCACACATTAGCAATATAGACAGGAAGG ACTCACGATCACACGTTAGCAATACAGACACAGAAGGACTCATCACACGT TAGCAATACAGACAGGCAGGACTCATGATCACACGTCAGCAATACAGGCA GGCAGGACTCATGATCACACGTTAGCAATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	314	0.0032	-180	c.-29 others(11): Show c.-2978_-2799del		OR2T11	ENSG00000279301.5	transcript	ENST00000641193.1	protein_coding					2601		chr1	TogoVar
OR2T35_chr1_248631356_248650278	248637691	TACAGACA others(173): Show TACAGACAGGCAGGACTCATGGTCACACATTAGCAATATAGACAGGAAGG ACTCACGATCACACGTTAGCAATACAGACACAGAAGGACTCATCACACGT TAGCAATACAGACAGGCAGGACTCATGATCACACGTCAGCAATACAGGCA GGCAGGACTCATGATCACACGTTAGCAATAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp2 HG01361.hp1 HG00733.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0041 a0001c0001t0010g0072 a0001c0001t0010g0041 a0001c0001t0010g0072	2	309	0.0065	-180	c.41 others(9): Show c.416_*595del		OR2T35	ENSG00000177151.5	transcript	ENST00000641268.1	protein_coding	2/2				416		chr1	TogoVar
OR2V2_chr5_181142586_181164285	181160688	TGCATCGT others(173): Show TGCATCGTCATTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTGG GGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAGGACGAGCATCGTCA CTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAGGACG AGCATCGTCACTGGGGGTGGGGCCAGGACGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03579.hp2 NA18522.hp1 HG03486.hp2 HG03579.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0033 a0001c0001t0051 a0002c0002t0028 a0001c0001t0033 a0001c0001t0051 a0002c0002t0028	a0001c0001t0033g0090 a0001c0001t0051g0015 a0002c0002t0028g0024 a0001c0001t0033g0090 a0001c0001t0051g0015 a0002c0002t0028g0024	3	424	0.0071	-180	c.47 others(11): Show c.4799_*4978del		OR2V2	ENSG00000182613.3	transcript	ENST00000641492.1	protein_coding					1404		chr5	TogoVar
OR2V2_chr5_181142586_181164285	181160697	ATTGGGGG others(173): Show ATTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAGGAC GAGCATCGTCACTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTG GGGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAGGACGAGCATCGTC ACTGGGGGTGGGGCCAGGACGAGCATCGTCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0001 a0001c0001t0094g0001	1	424	0.0024	-180	c.48 others(11): Show c.4808_*4987del		OR2V2	ENSG00000182613.3	transcript	ENST00000641492.1	protein_coding					1413		chr5	TogoVar
OR2V2_chr5_181142586_181164285	181160727	ACTGGGGG others(173): Show ACTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAGGAC GAGCATCGTCACTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTG GGGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAGGACGAGCATCGTC GTTGGGGGTGGGGCCAGGACGAGCATCGTCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01884.hp2 HG02055.hp2 others(5): Show HG01167.hp1 HG01884.hp2 HG02055.hp2 HG02723.hp1 HG03041.hp1 HG03540.hp1 NA19030.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0008 a0001c0001t0012 a0001c0001t0039 others(1): Show a0001c0001t0008 a0001c0001t0012 a0001c0001t0039 a0003c0003t0009	a0001c0001t0008g0007 a0001c0001t0012g0005 a0001c0001t0039g0037 others(1): Show a0001c0001t0008g0007 a0001c0001t0012g0005 a0001c0001t0039g0037 a0003c0003t0009g0004	8	424	0.0189	-180	c.48 others(11): Show c.4838_*5017del		OR2V2	ENSG00000182613.3	transcript	ENST00000641492.1	protein_coding					1443		chr5	TogoVar
OSGIN1_chr16_83948240_83971332	83950287	CAGCACAC others(173): Show CAGCACACACGTACACACACATGCACACGTGAGCACATGTGCACACATGC ACATACATACTGGCACACACGTACACACACATGCACACATGAGCACATGT GCACACATGCACATACACACTGGCACACACGTACACACACATGCACACAT GAGCACATGTGCACACATGCACATACATACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00673.hp2 others(26): Show HG00099.hp2 HG00642.hp2 HG00673.hp2 HG01243.hp2 HG01433.hp1 HG01515.hp1 HG02083.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG03239.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp2 NA18943.hp1 NA18944.hp1 NA18962.hp1 NA18971.hp1 NA19057.hp2 NA19089.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0012 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0001c0002t0003 a0001c0003t0003 a0001c0003t0004 a0001c0004t0002 a0001c0007t0003 a0001c0009t0002 a0001c0012t0003 a0006c0010t0002	a0001c0001t0001g0110 a0001c0001t0002g0011 a0001c0001t0002g0152 others(22): Show a0001c0001t0001g0110 a0001c0001t0002g0011 a0001c0001t0002g0152 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0211 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0003g0160 a0001c0001t0003g0182 a0001c0001t0005g0030 a0001c0001t0005g0156 a0001c0001t0005g0164 a0001c0002t0002g0036 a0001c0002t0002g0167 a0001c0002t0003g0202 a0001c0003t0003g0162 a0001c0003t0003g0241 a0001c0003t0004g0112 a0001c0004t0002g0155 a0001c0007t0003g0175 a0001c0009t0002g0157 a0001c0012t0003g0185 a0006c0010t0002g0154	29	350	0.0829	-180	c.-31 others(11): Show c.-3115_-2936del		OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding					2952		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83950315	GTGAGCAC others(173): Show GTGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACACAC ACATGCACACATGAGCACATGTGCACACATGCACATACACACTGGCACAC ACGTACACACACATGCACACATGAGCACATGTGCACACATGCACATACAT ACTGGCACACACGTACACACACATGCACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02602.hp2 HG02738.hp1 others(7): Show HG02056.hp1 HG02602.hp2 HG02738.hp1 NA18955.hp2 NA18960.hp1 NA18970.hp1 NA18971.hp2 NA18990.hp2 NA19074.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0002 a0001c0003t0003	a0001c0001t0002g0012 a0001c0001t0002g0158 a0001c0001t0002g0166 others(4): Show a0001c0001t0002g0012 a0001c0001t0002g0158 a0001c0001t0002g0166 a0001c0001t0002g0186 a0001c0003t0002g0165 a0001c0003t0003g0035 a0001c0003t0003g0206	10	350	0.0286	-180	c.-30 others(11): Show c.-3087_-2908del		OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding					2924		chr16	TogoVar
PCGF3_chr4_700832_775089	707808	CCGGGACC others(173): Show CCGGGACCCTGGGACAGCCCTGTTTTCCCCTGGGGGTCGGGACCCTGGGA CAGCCCTGTTTTCACCTGGGGGTCGGGACCCTGAGACAGCCCTGTTTTCC CCTGGGGGTCGGGACCCTGGGACAGCCCTGTTTTCCCCTGGGGGCCGGGA CCCTGGGACAGCCCTGTTTTCCCCTGGGGGT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0068 a0002c0002t0003g0068	1	366	0.0027	-180	c.-19 others(19): Show c.-190+1874_-190+2053del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	707907	CCCTGGGG others(173): Show CCCTGGGGGTCGGGACCCTGGGACAGCCCTGTTTTCCCCTGGGGGCCGGG ACCCTGGGACAGCCCTGTTTTCCCCTGGGGGTCGGGACCCTGGGACAGCC CTGTTTTCCCCTGGGGGCCGGGACCCTGGGACAGCCCTGTTTTCACCTGG GGGCCGGGACCCTGGGACAGCCCTGTTTTCA	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0067 a0001c0001t0033g0067	1	366	0.0027	-180	c.-19 others(19): Show c.-190+1946_-190+2125del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCSK6_chr15_101298933_101494707	101360480	ACACACTC others(173): Show ACACACTCCTGCCCGGGGGCCTTAGCATCCCCTGGAACACACCAGACACA CTCCTGCCCGGGGGCCTTAGCATCCCCTGGAACACACCAGGCACACTCCT GCCCGGGGGCCTTAGCATCCCCTGGAACACACCAGGCACACTCCTGCCCA GGGGCCTTAGCATCCCCTGGAACACACCAGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG01106.hp1 others(26): Show HG00438.hp2 HG00673.hp2 HG01106.hp1 HG01192.hp1 HG02056.hp1 HG02165.hp2 HG02451.hp1 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02809.hp2 HG02897.hp2 HG02976.hp2 HG03195.hp2 HG03209.hp1 HG03831.hp2 NA18522.hp1 NA18906.hp1 NA18945.hp1 NA18954.hp1 NA18955.hp1 NA18985.hp2 NA18986.hp1 NA18990.hp2 NA19004.hp1 NA19079.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0003 a0001c0005 others(8): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0002c0008 a0003c0024 a0006c0021 a0007c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0002 a0001c0003t0003 a0001c0005t0002 a0001c0007t0003 a0001c0009t0001 a0001c0010t0001 a0001c0013t0002 a0002c0008t0001 a0002c0008t0002 a0003c0024t0002 a0006c0021t0001 a0007c0025t0001	a0001c0001t0001g0246 a0001c0001t0001g0269 a0001c0001t0002g0147 others(26): Show a0001c0001t0001g0246 a0001c0001t0001g0269 a0001c0001t0002g0147 a0001c0001t0002g0162 a0001c0001t0002g0178 a0001c0001t0002g0226 a0001c0001t0002g0241 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0271 a0001c0001t0002g0292 a0001c0001t0002g0301 a0001c0001t0005g0268 a0001c0003t0002g0059 a0001c0003t0002g0120 a0001c0003t0003g0113 a0001c0005t0002g0158 a0001c0005t0002g0207 a0001c0007t0003g0108 a0001c0009t0001g0245 a0001c0010t0001g0223 a0001c0010t0001g0249 a0001c0013t0002g0064 a0002c0008t0001g0029 a0002c0008t0002g0016 a0002c0008t0002g0027 a0003c0024t0002g0321 a0006c0021t0001g0004 a0007c0025t0001g0324	29	336	0.0863	-180	c.185 others(19): Show c.1858+5536_1858+5715del		PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	13/21						chr15	TogoVar
PDCD6_chr5_266646_319974	293474	TGGAGAAA others(173): Show TGGAGAAAGGTATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCACG AGGCACTGGGAGCTGCAAACGCCCGCGATACTGTCAGAGACGGAGAAAGG TATGACAGGAAGAGCAGATCAAGAAGACGGGAACAGCACGAGGCACTGGG AGCTGCAAACGCCCGCGATACTGTCAGAGAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02886.hp1 HG02965.hp2 others(2): Show HG00621.hp2 HG02886.hp1 HG02965.hp2 HG03195.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 others(2): Show a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0002t0001g0055 a0001c0002t0001g0056	5	360	0.0139	-180	c.164 others(19): Show c.164-10329_164-10150del		PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
PIEZO1_chr16_88710338_88790220	88741723	CGGGTGGG others(173): Show CGGGTGGGAGTGTGGATGGGTCTCCAGGTGCGGGTGGGAGTGTGGATGGG TCTCCAGGTGCGGGTGAGAGTGTGGATGGGTCTGCAGGTGCGGGTGGGAG TGTGGATGGGTCTCCAGGTGCGGGTGGGAGTGTGGATGGGTCTCCAGGTG CGGGTGAGAGTGTGGATGGGTCTCCAGGTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(127): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02486.hp2 HG02572.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18960.hp2 NA18962.hp2 NA18966.hp2 NA18970.hp2 NA18980.hp2 NA18983.hp2 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19064.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(37): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0012 a0013 a0015 a0017 a0018 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0050 a0051 a0054 a0058 a0065 a0066 a0068 a0070 a0071 a0073 a0075 a0077 a0079 a0080 a0081 a0084 a0085 a0086 a0089 a0091 a0092	a0001c0002 a0001c0007 a0001c0008 others(84): Show a0001c0002 a0001c0007 a0001c0008 a0001c0022 a0001c0033 a0001c0048 a0001c0101 a0001c0104 a0002c0003 a0002c0006 a0002c0009 a0002c0016 a0002c0018 a0002c0027 a0002c0031 a0002c0043 a0002c0082 a0002c0090 a0002c0125 a0003c0005 a0003c0017 a0003c0030 a0003c0042 a0003c0085 a0003c0086 a0004c0004 a0004c0020 a0004c0053 a0004c0111 a0005c0015 a0005c0059 a0005c0068 a0005c0118 a0005c0120 a0006c0021 a0006c0056 a0006c0057 a0006c0116 a0006c0121 a0009c0036 a0009c0064 a0009c0065 a0009c0127 a0009c0128 a0012c0025 a0012c0035 a0013c0012 a0015c0066 a0015c0067 a0015c0130 a0015c0131 a0017c0087 a0017c0089 a0017c0091 a0018c0026 a0018c0157 a0027c0046 a0027c0092 a0028c0032 a0029c0028 a0030c0058 a0030c0122 a0031c0052 a0031c0110 a0032c0034 a0033c0039 a0050c0077 a0051c0123 a0054c0041 a0058c0106 a0065c0095 a0066c0081 a0068c0047 a0070c0094 a0071c0045 a0073c0088 a0075c0119 a0077c0112 a0079c0055 a0080c0054 a0081c0115 a0084c0078 a0085c0124 a0086c0076 a0089c0062 a0091c0146 a0092c0145	a0001c0002t0001 a0001c0007t0001 a0001c0007t0022 others(91): Show a0001c0002t0001 a0001c0007t0001 a0001c0007t0022 a0001c0008t0002 a0001c0022t0001 a0001c0033t0001 a0001c0048t0001 a0001c0101t0001 a0001c0104t0001 a0002c0003t0001 a0002c0006t0001 a0002c0009t0001 a0002c0016t0001 a0002c0018t0001 a0002c0027t0011 a0002c0031t0001 a0002c0031t0020 a0002c0043t0001 a0002c0082t0001 a0002c0090t0001 a0002c0125t0001 a0003c0005t0001 a0003c0005t0008 a0003c0005t0010 a0003c0017t0002 a0003c0030t0001 a0003c0030t0002 a0003c0042t0002 a0003c0085t0001 a0003c0086t0001 a0004c0004t0001 a0004c0020t0001 a0004c0020t0003 a0004c0053t0001 a0004c0111t0001 a0005c0015t0001 a0005c0059t0001 a0005c0068t0001 a0005c0118t0001 a0005c0120t0001 a0006c0021t0001 a0006c0056t0001 a0006c0057t0001 a0006c0116t0001 a0006c0121t0001 a0009c0036t0001 a0009c0064t0001 a0009c0065t0001 a0009c0127t0001 a0009c0128t0001 a0012c0025t0001 a0012c0035t0001 a0013c0012t0001 a0015c0066t0001 a0015c0067t0001 a0015c0130t0001 a0015c0131t0001 a0017c0087t0001 a0017c0089t0001 a0017c0091t0001 a0018c0026t0002 a0018c0157t0002 a0027c0046t0001 a0027c0092t0001 a0028c0032t0001 a0029c0028t0001 a0029c0028t0010 a0030c0058t0001 a0030c0122t0001 a0031c0052t0001 a0031c0110t0001 a0032c0034t0023 a0033c0039t0001 a0050c0077t0001 a0051c0123t0001 a0054c0041t0002 a0058c0106t0001 a0065c0095t0001 a0066c0081t0001 a0068c0047t0001 a0070c0094t0008 a0071c0045t0001 a0073c0088t0003 a0075c0119t0001 a0077c0112t0014 a0079c0055t0001 a0080c0054t0017 a0081c0115t0001 a0084c0078t0006 a0085c0124t0001 a0086c0076t0001 a0089c0062t0001 a0091c0146t0003 a0092c0145t0001	a0001c0002t0001g0064 a0001c0007t0001g0034 a0001c0007t0001g0076 others(127): Show a0001c0002t0001g0064 a0001c0007t0001g0034 a0001c0007t0001g0076 a0001c0007t0001g0079 a0001c0007t0001g0111 a0001c0007t0022g0276 a0001c0008t0002g0188 a0001c0008t0002g0205 a0001c0022t0001g0097 a0001c0022t0001g0098 a0001c0033t0001g0264 a0001c0033t0001g0265 a0001c0048t0001g0108 a0001c0101t0001g0119 a0001c0104t0001g0206 a0002c0003t0001g0045 a0002c0003t0001g0057 a0002c0003t0001g0065 a0002c0003t0001g0075 a0002c0003t0001g0085 a0002c0003t0001g0092 a0002c0006t0001g0128 a0002c0006t0001g0133 a0002c0006t0001g0227 a0002c0009t0001g0062 a0002c0016t0001g0261 a0002c0016t0001g0262 a0002c0018t0001g0213 a0002c0018t0001g0243 a0002c0018t0001g0252 a0002c0027t0011g0198 a0002c0027t0011g0199 a0002c0031t0001g0244 a0002c0031t0020g0124 a0002c0043t0001g0113 a0002c0082t0001g0230 a0002c0090t0001g0257 a0002c0125t0001g0241 a0003c0005t0001g0134 a0003c0005t0001g0135 a0003c0005t0001g0194 a0003c0005t0001g0228 a0003c0005t0008g0281 a0003c0005t0010g0002 a0003c0017t0002g0236 a0003c0030t0001g0203 a0003c0030t0002g0136 a0003c0042t0002g0073 a0003c0085t0001g0255 a0003c0086t0001g0147 a0004c0004t0001g0038 a0004c0004t0001g0049 a0004c0004t0001g0068 a0004c0004t0001g0071 a0004c0004t0001g0074 a0004c0004t0001g0084 a0004c0020t0001g0175 a0004c0020t0001g0189 a0004c0020t0003g0006 a0004c0053t0001g0096 a0004c0111t0001g0153 a0005c0015t0001g0048 a0005c0015t0001g0069 a0005c0015t0001g0087 a0005c0059t0001g0072 a0005c0068t0001g0088 a0005c0118t0001g0197 a0005c0120t0001g0196 a0006c0021t0001g0159 a0006c0021t0001g0239 a0006c0021t0001g0250 a0006c0056t0001g0036 a0006c0057t0001g0101 a0006c0116t0001g0254 a0006c0121t0001g0249 a0009c0036t0001g0139 a0009c0036t0001g0237 a0009c0064t0001g0105 a0009c0065t0001g0086 a0009c0127t0001g0275 a0009c0128t0001g0130 a0012c0025t0001g0050 a0012c0025t0001g0051 a0012c0035t0001g0181 a0012c0035t0001g0182 a0013c0012t0001g0129 a0013c0012t0001g0208 a0015c0066t0001g0054 a0015c0067t0001g0107 a0015c0130t0001g0251 a0015c0131t0001g0142 a0017c0087t0001g0168 a0017c0089t0001g0132 a0017c0091t0001g0186 a0018c0026t0002g0226 a0018c0026t0002g0266 a0018c0157t0002g0180 a0027c0046t0001g0055 a0027c0092t0001g0207 a0028c0032t0001g0235 a0029c0028t0001g0221 a0029c0028t0010g0004 a0030c0058t0001g0058 a0030c0122t0001g0171 a0031c0052t0001g0099 a0031c0110t0001g0169 a0032c0034t0023g0277 a0033c0039t0001g0185 a0033c0039t0001g0193 a0050c0077t0001g0123 a0051c0123t0001g0263 a0054c0041t0002g0109 a0058c0106t0001g0214 a0065c0095t0001g0127 a0066c0081t0001g0144 a0068c0047t0001g0095 a0070c0094t0008g0279 a0071c0045t0001g0104 a0073c0088t0003g0012 a0075c0119t0001g0141 a0077c0112t0014g0030 a0079c0055t0001g0070 a0080c0054t0017g0033 a0081c0115t0001g0172 a0084c0078t0006g0026 a0085c0124t0001g0190 a0086c0076t0001g0176 a0089c0062t0001g0067 a0091c0146t0003g0019 a0092c0145t0001g0184	130	282	0.4610	-180	c.326 others(15): Show c.326+150_327-108del		PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	4/50						chr16	TogoVar
PIK3C2G_chr12_18256518_18653416	18369567	ATCGTATA others(173): Show ATCGTATAATTGACATATGATCATATAACGATCGTATAATTGACATATGA TCATATAACGATCGTATAATTGACATATGATCATATAACGGTCGTATAAT TGACATATGATCATATAACGGTCGTATAATTGACATATGATCATATAACG GTCGTATAATTGACATATGATCATATAACGG	A A	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0041 a0001c0004t0001g0041	1	176	0.0057	-180	c.174 others(19): Show c.1749-1523_1749-1344del		PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	12/32					INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3C2G_chr12_18256518_18653416	18369657	GTCGTATA others(173): Show GTCGTATAATTGACATATGATCATATAACGGTCGTATAATTGACATATGA TCATATAACGGTCGTATAATTGACATATGATCATATAACGGTCGTATAAT TGACATATGATCATATAACGATCGTATAATTGACATATGATCATATAACG ATCGTATAATTGACATATGATCATATAACGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0065 a0002c0003t0001g0065	1	176	0.0057	-180	c.174 others(19): Show c.1749-1493_1749-1314del		PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	12/32					INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHG4B_chr5_87168_194966	164460	GTAATGTT others(173): Show GTAATGTTGTGACGGAGCAGAGCTCACACTAATGCTCTGACAGGGGGCGG AGCTCACACAGTAATGCTGTGACAGGGGGCGGAGCTCACACAGTAATGCT CTGACAGGGGGCGGAGCTCACACAGTAATGCTGTGACGGAGCGGAGCTCA CAGTAATGCTGTGACGGAGCGGAGCTCACAC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0041 a0041	a0041c0064 a0041c0064	a0041c0064t0010 a0041c0064t0010	a0041c0064t0010g0190 a0041c0064t0010g0190	1	210	0.0048	-180	c.347 others(18): Show c.3476+918_3476+1097del		PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
PLXDC2_chr10_19811432_20294856	20126561	AACACACA others(173): Show AACACACACGTTATATATGTATATATAACACACACGTTATATATGTATAT ATAACACACACGTTATATATGTATATATAACACACACGTTATATATGTAT ATATAACACACGTTATATATGTATATATAACACACGTTATATATGTATAT ATAACACACACGTTATATATGTATATAGAAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0166 a0001c0001t0036g0166	1	180	0.0056	-180	c.542 others(19): Show c.542-16727_542-16548del		PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
PNPT1_chr2_55629061_55698844	55633354	GGGGAGGC others(173): Show GGGGAGGCTGAGTCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCTGAGAATGCACCACTGCACCCCAGCCTGGGCGACAGAGCAAGAT GCCATCTCAAAAAAATAAGAAAAAATAAAATAAAAATACAAAAATTAGCC GGGTGTAGGGCACCTGTAATCCCAGCTACTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG03490.hp2 HG03492.hp2 others(3): Show HG01192.hp2 HG03490.hp2 HG03492.hp2 HG03834.hp2 HG03927.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 others(3): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041	6	390	0.0154	-180	c.27 others(11): Show c.2703_*2882del		PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding					706		chr2	TogoVar
PODNL1_chr19_13926187_13943417	13937054	ACAACACC others(173): Show ACAACACCCCCACAATCGACCCCAAATGCGCCATCACCCCCGCAATCAAC CCCACATGCCACAACACCCCCGCAATCGACCCCAAATGTGCCATCACCCC CGCAATCAACCCCACATGCCCCAACACCCCCGCAATCGACCCCAAATGTG CCATCACCCCCGCAATCAACCCCACATGCCC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02040.hp2 HG00673.hp1 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0130 a0001c0001t0001g0131	2	432	0.0046	-180	c.225 others(15): Show c.225+551_226-595del		PODNL1	ENSG00000132000.14	transcript	ENST00000588872.3	protein_coding	2/9						chr19	TogoVar
POLG_chr15_89311320_89339824	89325079	AGTGAGAG others(173): Show AGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTG AGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAG AGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTG AGTGAGAGAGTGAGTGAGTGAGAGAGAGAGT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0084 a0001c0006t0001g0084	1	398	0.0025	-180	c.194 others(17): Show c.1949+191_1949+370del		POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22						chr15	TogoVar

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