Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NGEF_chr2_232873701_233018256	232906332	GTGGGAGG others(332): Show GTGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGTCAGCCACCCCGTC TGGGAGGTGAGGGGCACCTCCCTCCGGCCACCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCACCACCCCGTGTGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGTCAGCCGCCCCGTCCGGGAGGTGAGGGGCACCTCCCTC CGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCATC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18981.hp2 HG02809.hp2 NA18981.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0001c0002 a0002c0008	a0001c0002t0016 a0002c0008t0004 a0001c0002t0016 a0002c0008t0004	a0001c0002t0016g0023 a0002c0008t0004g0079 a0001c0002t0016g0023 a0002c0008t0004g0079	2	362	0.0055	-339	c.829 others(19): Show c.829-11755_829-11417del	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
PCGF3_chr4_700832_775089	745156	CCCGGGGT others(332): Show CCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	366	0.0027	-339	c.462 others(15): Show c.462+471_462+809del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SAMD11_chr1_918923_949574	934150	GGGAGGCG others(332): Show GGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGT GGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTT ACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGC TGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGA GGCGGCTGCGTTACAGGTGGGCAGGGGGGGCGGCTGCGTTACAGGTGGGC GGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAG GTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGA	G G	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0250 a0002c0003t0004g0250	1	434	0.0023	-339	c.843 others(17): Show c.843-1619_843-1281del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARDH_chr9_133658560_133743352	133668841	CTCCCTCT others(332): Show CTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCC TCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTC CCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCA TCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCTTCCCT CTCCCTTACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTC TCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTC CCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0003 a0002c0018t0003	a0002c0018t0003g0124 a0002c0018t0003g0124	1	262	0.0038	-339	c.249 others(19): Show c.2495+1404_2495+1742del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCN11A_chr3_38840764_39056944	38877083	CTATATAT others(332): Show CTATATATATGGTATATATATGGTGTATATACTATATATATGGTGTATAT ACTATATATATGGTATATATATGGTGTATATACTATATATATGGTATATA TATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTATAT ATATGGTATATATATGGTGTATATACTATATATATGGTATATATATGGTG TATATACTATATATATGGTATATATATGGTGTATATACTATATATGGTAT ATATATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTA TATATATGGTATATATATGGTGTATATACTATATATATGG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01070.hp2 HG01071.hp2 others(29): Show HG00558.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01516.hp1 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02148.hp2 HG02165.hp1 HG02683.hp2 HG03225.hp1 HG04115.hp1 NA18747.hp1 NA18942.hp2 NA18965.hp1 NA18981.hp1 NA18982.hp1 NA18986.hp1 NA19060.hp2 NA19086.hp1 NA20752.hp1 NA21309.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0003c0004 a0003c0008 others(3): Show a0001c0001 a0003c0004 a0003c0008 a0003c0010 a0004c0013 a0006c0022	a0001c0001t0001 a0003c0004t0001 a0003c0008t0001 others(3): Show a0001c0001t0001 a0003c0004t0001 a0003c0008t0001 a0003c0010t0009 a0004c0013t0001 a0006c0022t0001	a0001c0001t0001g0100 a0003c0004t0001g0063 a0003c0004t0001g0064 others(29): Show a0001c0001t0001g0100 a0003c0004t0001g0063 a0003c0004t0001g0064 a0003c0004t0001g0086 a0003c0004t0001g0206 a0003c0004t0001g0209 a0003c0004t0001g0210 a0003c0004t0001g0211 a0003c0004t0001g0212 a0003c0004t0001g0213 a0003c0004t0001g0214 a0003c0004t0001g0216 a0003c0004t0001g0217 a0003c0004t0001g0219 a0003c0004t0001g0220 a0003c0004t0001g0221 a0003c0004t0001g0222 a0003c0004t0001g0223 a0003c0004t0001g0224 a0003c0004t0001g0225 a0003c0004t0001g0227 a0003c0004t0001g0228 a0003c0004t0001g0230 a0003c0004t0001g0231 a0003c0004t0001g0232 a0003c0004t0001g0237 a0003c0008t0001g0136 a0003c0008t0001g0139 a0003c0010t0009g0002 a0003c0010t0009g0003 a0004c0013t0001g0141 a0006c0022t0001g0198	32	314	0.1019	-339	c.339 others(19): Show c.3393+2528_3393+2866del	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SLC7A1_chr13_29504414_29600688	29558771	GGGGGAGA others(332): Show GGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGCAGAGTGA ATCTGAATGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTG AGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAG AATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGAATG AGGGGGGAGTGAATGTGAGGGGGGAGAGAATGTGAGTGAGGGGGAGTGAA TGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAG GCAGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0089 a0001c0004t0006g0089	1	330	0.0030	-339	c.-11 others(19): Show c.-114-5250_-114-4912del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SNTG2_chr2_945849_1372613	1345537	TTTTCCCC others(332): Show TTTTCCCCCTGTTGTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCA GCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAA GAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTG TAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGG ACATGCATAGGAAGAGTGGACTGGCACTTTCCCCCTGTTCTGGGCACGCC TGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAA TTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02895.hp2 HG02451.hp1 HG02895.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0017 a0001c0002 a0007c0017	a0001c0002t0002 a0007c0017t0001 a0001c0002t0002 a0007c0017t0001	a0001c0002t0002g0076 a0007c0017t0001g0105 a0001c0002t0002g0076 a0007c0017t0001g0105	2	190	0.0105	-339	c.148 others(21): Show c.1489-21793_1489-21455del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TAF3_chr10_7813505_8021631	7953849	AAATGAGT others(332): Show AAATGAGTGGATTAGTCCTAGTTAACACAGAGCTCTCCATAGTGAGATTC AGAGTGCACTCCATAGGTGAATGAGCGGATTAGTCCTAGTTAACACAGAG CTCTCCCTAGTGAGATTCAGAGTGCACTCCACAGGTGAATGAGTGGATTA GTCCTAGTTAACACAGAGCTCTCCATAGTGAGATTCAGAGTGCACTCCAT AGGCGAATGAGTGAATTAGTTCTAGTTAACATGAGCTCTCCATAGTGAGA TTTAGAGTGCACTCCATAGGTGAATGAATGAATTAGTCCCAGTTAACACA GAGCTCTCCATAGTGAGATTCAGAGTGCACTCCATATATG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA19012.hp2 NA19082.hp1 HG01192.hp1 NA19012.hp2 NA19082.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0002 a0006c0006t0001 a0006c0006t0002	a0006c0006t0001g0111 a0006c0006t0002g0112 a0006c0006t0002g0165 a0006c0006t0001g0111 a0006c0006t0002g0112 a0006c0006t0002g0165	3	344	0.0087	-339	c.410 others(18): Show c.410-10035_410-9697del	TAF3	ENSG00000165632.9	transcript	ENST00000344293.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
TKFC_chr11_61328228_61354242	61340313	TCCCTGCC others(332): Show TCCCTGCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(220): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0004 a0001c0005 others(15): Show a0001c0001 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0019 a0002c0002 a0002c0007 a0003c0003 a0004c0006 a0005c0016 a0006c0011 a0007c0012 a0008c0015 a0009c0014 a0010c0018	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(42): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0004t0005 a0001c0004t0034 a0001c0005t0005 a0001c0005t0035 a0001c0008t0001 a0001c0009t0001 a0001c0010t0036 a0001c0013t0001 a0001c0019t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0017 a0002c0002t0018 a0002c0002t0020 a0002c0002t0021 a0002c0002t0025 a0002c0007t0007 a0003c0003t0001 a0003c0003t0023 a0004c0006t0028 a0004c0006t0032 a0005c0016t0002 a0006c0011t0001 a0007c0012t0001 a0008c0015t0005 a0009c0014t0001 a0010c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(88): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0074 a0001c0001t0006g0001 a0001c0001t0006g0015 a0001c0001t0014g0001 a0001c0001t0016g0001 a0001c0001t0019g0040 a0001c0001t0022g0001 a0001c0001t0024g0001 a0001c0001t0026g0001 a0001c0001t0027g0001 a0001c0001t0029g0001 a0001c0001t0030g0027 a0001c0001t0031g0034 a0001c0004t0005g0001 a0001c0004t0005g0011 a0001c0004t0005g0017 a0001c0004t0005g0052 a0001c0004t0034g0011 a0001c0005t0005g0016 a0001c0005t0035g0036 a0001c0008t0001g0001 a0001c0009t0001g0001 a0001c0010t0036g0001 a0001c0013t0001g0001 a0001c0019t0001g0004 a0002c0002t0002g0002 a0002c0002t0002g0012 a0002c0002t0002g0020 a0002c0002t0002g0058 a0002c0002t0002g0060 a0002c0002t0004g0003 a0002c0002t0007g0007 a0002c0002t0007g0008 a0002c0002t0007g0057 a0002c0002t0009g0002 a0002c0002t0009g0062 a0002c0002t0010g0002 a0002c0002t0010g0061 a0002c0002t0011g0002 a0002c0002t0011g0056 a0002c0002t0012g0008 a0002c0002t0012g0059 a0002c0002t0013g0019 a0002c0002t0017g0008 a0002c0002t0018g0073 a0002c0002t0020g0063 a0002c0002t0021g0002 a0002c0002t0025g0075 a0002c0007t0007g0007 a0003c0003t0001g0001 a0003c0003t0001g0004 a0003c0003t0023g0001 a0004c0006t0028g0025 a0004c0006t0032g0023 a0005c0016t0002g0067 a0006c0011t0001g0004 a0007c0012t0001g0039 a0008c0015t0005g0031 a0009c0014t0001g0001 a0010c0018t0001g0001	223	242	0.9215	-339	c.486 others(15): Show c.486+894_487-769del	TKFC	ENSG00000149476.16	transcript	ENST00000394900.8	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
TXNDC16_chr14_52425596_52557505	52506516	TTTCAACA others(332): Show TTTCAACAACCCTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTCTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGC CCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG00735.hp2 others(38): Show HG00438.hp1 HG00642.hp1 HG00735.hp2 HG01099.hp2 HG01257.hp2 HG01515.hp2 HG01884.hp1 HG02074.hp1 HG02132.hp2 HG02258.hp1 HG02559.hp2 HG02622.hp2 HG02897.hp2 HG02976.hp1 HG03041.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18951.hp1 NA18960.hp1 NA18962.hp1 NA18969.hp1 NA18986.hp1 NA18994.hp2 NA18999.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19054.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19086.hp2 NA19091.hp1 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0009 a0002c0003 a0002c0009	a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 others(3): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0010 a0002c0003t0011 a0002c0009t0002	a0002c0003t0001g0200 a0002c0003t0002g0006 a0002c0003t0002g0007 others(38): Show a0002c0003t0001g0200 a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0002g0008 a0002c0003t0002g0009 a0002c0003t0002g0010 a0002c0003t0002g0011 a0002c0003t0002g0196 a0002c0003t0002g0197 a0002c0003t0002g0198 a0002c0003t0002g0199 a0002c0003t0002g0201 a0002c0003t0002g0202 a0002c0003t0002g0203 a0002c0003t0002g0204 a0002c0003t0002g0206 a0002c0003t0002g0207 a0002c0003t0002g0208 a0002c0003t0002g0209 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0212 a0002c0003t0002g0213 a0002c0003t0002g0215 a0002c0003t0002g0216 a0002c0003t0002g0218 a0002c0003t0002g0219 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0222 a0002c0003t0002g0223 a0002c0003t0002g0224 a0002c0003t0002g0225 a0002c0003t0002g0226 a0002c0003t0002g0227 a0002c0003t0002g0229 a0002c0003t0002g0230 a0002c0003t0004g0228 a0002c0003t0010g0214 a0002c0003t0011g0205 a0002c0009t0002g0217	41	238	0.1723	-339	c.756 others(17): Show c.756+4385_756+4723del	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	9/20			chr14	TogoVar
ZNF516_chr18_76352682_76500242	76392812	AAGGCAGG others(332): Show AAGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02004.hp1 HG02273.hp2 others(8): Show HG01978.hp2 HG02004.hp1 HG02273.hp2 HG02698.hp1 HG03491.hp2 HG03704.hp2 HG04199.hp1 NA18959.hp1 NA18971.hp1 NA18977.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0023 a0001c0001t0038 a0001c0001t0082 a0001c0002t0012 a0001c0002t0117 a0001c0002t0126 a0001c0002t0164	a0001c0001t0003g0239 a0001c0001t0004g0081 a0001c0001t0006g0256 others(8): Show a0001c0001t0003g0239 a0001c0001t0004g0081 a0001c0001t0006g0256 a0001c0001t0006g0312 a0001c0001t0023g0033 a0001c0001t0038g0240 a0001c0001t0082g0238 a0001c0002t0012g0315 a0001c0002t0117g0084 a0001c0002t0126g0337 a0001c0002t0164g0330	11	346	0.0318	-339	c.181 others(21): Show c.1811-12848_1811-12510del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF827_chr4_145752627_145943823	145846370	AGGGAGGC others(332): Show AGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GCGAGCCGAGATCGCGCCACTACACTCCAGCCTGAGCAACAGAGCAAGAC TCTGTCTCAAACAAACAAACAAACAAAAAAACACAACAACAACAACAAAA AACAACCATCACTCAGGCCAGGTGCTGTGGCTCATGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGAC CAGCCTGGCCAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAATT AGCAGGGCATGATGGCGCGTGCCTGTAGTCCCAGCTACTT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp2 HG02040.hp1 others(37): Show HG01071.hp1 HG01106.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02165.hp1 HG02258.hp1 HG02602.hp1 HG02647.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03654.hp2 NA18612.hp1 NA18940.hp1 NA18943.hp1 NA18951.hp1 NA18953.hp2 NA18960.hp2 NA18967.hp2 NA18978.hp1 NA18986.hp1 NA18986.hp2 NA18998.hp2 NA19054.hp2 NA19060.hp1 NA19065.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19091.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0022 a0001c0001t0028 a0001c0001t0032	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0033 others(37): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0124 a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0002g0181 a0001c0001t0002g0196 a0001c0001t0002g0201 a0001c0001t0002g0211 a0001c0001t0002g0215 a0001c0001t0002g0227 a0001c0001t0002g0249 a0001c0001t0003g0019 a0001c0001t0003g0027 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0004g0184 a0001c0001t0004g0205 a0001c0001t0006g0116 a0001c0001t0008g0222 a0001c0001t0009g0088 a0001c0001t0011g0182 a0001c0001t0011g0183 a0001c0001t0012g0226 a0001c0001t0016g0133 a0001c0001t0016g0135 a0001c0001t0022g0242 a0001c0001t0028g0158 a0001c0001t0032g0247	40	254	0.1575	-339	c.222 others(17): Show c.2222-696_2222-358del	ZNF827	ENSG00000151612.18	transcript	ENST00000508784.6	protein_coding	6/14			chr4	TogoVar
ABR_chr17_998519_1184981	1063858	CTGTTACG others(331): Show CTGTTACGTGAACTGAGGGCTATGCATGTTCCTCCAGACACTGTTGTTAT GTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACT GAGGGCTATGCATGTTCCTCTAGACACTGTTATGTGAACTGAGGGTTATG CATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTC CTCTAGACACTGTTGTTACGTGAACTGAGGGCTATACATGTTCCTCTAGA CACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTT ATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(38): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00597.hp1 HG00735.hp2 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01884.hp2 HG02080.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03688.hp2 HG03927.hp1 HG04228.hp1 NA18944.hp1 NA18954.hp1 NA18971.hp1 NA18979.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA19002.hp2 NA19005.hp2 NA19065.hp2 NA19070.hp1 NA19090.hp1 NA19091.hp1 NA20300.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0020 a0001c0001t0022 a0001c0001t0049 a0001c0001t0065 a0001c0001t0086 a0001c0001t0088 a0001c0003t0012 a0001c0003t0016 a0001c0003t0017 a0001c0003t0021 a0001c0003t0080 a0001c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0001t0001g0089 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0214 a0001c0001t0001g0230 a0001c0001t0002g0170 a0001c0001t0002g0179 a0001c0001t0003g0062 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0117 a0001c0001t0003g0168 a0001c0001t0004g0258 a0001c0001t0005g0254 a0001c0001t0006g0086 a0001c0001t0006g0096 a0001c0001t0007g0306 a0001c0001t0007g0323 a0001c0001t0007g0324 a0001c0001t0008g0042 a0001c0001t0011g0125 a0001c0001t0013g0028 a0001c0001t0020g0161 a0001c0001t0022g0047 a0001c0001t0049g0193 a0001c0001t0065g0137 a0001c0001t0086g0294 a0001c0001t0088g0299 a0001c0003t0012g0119 a0001c0003t0016g0218 a0001c0003t0016g0229 a0001c0003t0017g0120 a0001c0003t0021g0276 a0001c0003t0080g0287 a0001c0010t0001g0139	41	337	0.1217	-338	c.118 others(19): Show c.1182+2881_1182+3218del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ACSL5_chr10_112369116_112433376	112398026	TACAGATC others(331): Show TACAGATCCACTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCC GGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(330): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0001c0003 a0001c0005 others(8): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0012 a0002c0002 a0003c0004 a0004c0006 a0006c0011 a0007c0008 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0003t0002 a0001c0005t0001 a0001c0010t0001 a0001c0012t0001 a0002c0002t0001 a0002c0002t0003 a0003c0004t0002 a0004c0006t0001 a0006c0011t0001 a0007c0008t0002 a0008c0007t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(325): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0354 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0250 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0279 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0301 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0326 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0348 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0355 a0001c0001t0003g0007 a0001c0001t0003g0234 a0001c0001t0003g0312 a0001c0001t0003g0314 a0001c0001t0003g0319 a0001c0001t0003g0321 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0337 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0006g0023 a0001c0001t0007g0009 a0001c0003t0002g0265 a0001c0003t0002g0266 a0001c0003t0002g0267 a0001c0003t0002g0268 a0001c0005t0001g0258 a0001c0005t0001g0272 a0001c0010t0001g0167 a0001c0012t0001g0282 a0002c0002t0001g0041 a0002c0002t0003g0002 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0061 a0003c0004t0002g0327 a0003c0004t0002g0329 a0003c0004t0002g0330 a0003c0004t0002g0347 a0004c0006t0001g0062 a0004c0006t0001g0086 a0006c0011t0001g0077 a0007c0008t0002g0328 a0008c0007t0002g0309	333	364	0.9148	-338	c.157 others(15): Show c.157-857_157-520del	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTSL1_chr9_18469153_18915950	18508893	TAGAAATA others(331): Show TAGAAATAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTG GCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00733.hp2 others(26): Show HG00099.hp1 HG00642.hp1 HG00733.hp2 HG01109.hp2 HG01243.hp1 HG01256.hp2 HG01358.hp2 HG01517.hp1 HG02109.hp1 HG02451.hp2 HG02717.hp2 HG02723.hp2 HG02976.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG04115.hp1 HG04199.hp1 HG06807.hp2 NA19030.hp1 NA19030.hp2 NA19074.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0006 a0008 a0020 a0022 a0028 a0029	a0001c0003 a0001c0005 a0001c0007 others(14): Show a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0057 a0001c0080 a0002c0001 a0002c0045 a0002c0079 a0004c0015 a0006c0014 a0006c0073 a0008c0030 a0020c0076 a0022c0041 a0028c0082 a0029c0081	a0001c0003t0003 a0001c0003t0029 a0001c0005t0002 others(21): Show a0001c0003t0003 a0001c0003t0029 a0001c0005t0002 a0001c0005t0003 a0001c0005t0014 a0001c0007t0004 a0001c0008t0002 a0001c0057t0002 a0001c0080t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0009 a0002c0001t0023 a0002c0001t0028 a0002c0045t0007 a0002c0079t0003 a0004c0015t0025 a0006c0014t0003 a0006c0073t0008 a0008c0030t0003 a0020c0076t0027 a0022c0041t0033 a0028c0082t0004 a0029c0081t0003	a0001c0003t0003g0015 a0001c0003t0029g0025 a0001c0005t0002g0009 others(26): Show a0001c0003t0003g0015 a0001c0003t0029g0025 a0001c0005t0002g0009 a0001c0005t0003g0011 a0001c0005t0003g0029 a0001c0005t0014g0018 a0001c0007t0004g0017 a0001c0008t0002g0069 a0001c0008t0002g0070 a0001c0057t0002g0001 a0001c0080t0002g0004 a0002c0001t0003g0217 a0002c0001t0004g0036 a0002c0001t0004g0038 a0002c0001t0009g0010 a0002c0001t0023g0016 a0002c0001t0028g0028 a0002c0045t0007g0014 a0002c0079t0003g0021 a0004c0015t0025g0037 a0006c0014t0003g0026 a0006c0014t0003g0027 a0006c0014t0003g0144 a0006c0073t0008g0071 a0008c0030t0003g0012 a0020c0076t0027g0072 a0022c0041t0033g0013 a0028c0082t0004g0003 a0029c0081t0003g0002	29	218	0.1330	-338	c.191 others(17): Show c.191+3947_191+4284del	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr9	TogoVar
ADARB2_chr10_1172313_1742525	1239964	GCCTCCCG others(331): Show GCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTC CCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCTCTGCCTCC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCG GTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGT GTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03139.hp2 HG02630.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0017 a0001c0003t0001 a0001c0001t0017 a0001c0003t0001	a0001c0001t0017g0030 a0001c0003t0001g0070 a0001c0001t0017g0030 a0001c0003t0001g0070	2	106	0.0189	-338	c.136 others(19): Show c.1361+1829_1361+2166del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ATP11A_chr13_112685038_112892168	112803714	CCCTCCTT others(331): Show CCCTCCTTCCCTCCCTGACCTCCTTCCCCTCCTTCTCTCATTCCCCTCCT TCCCTCCTTCCTCTCCCTCCCCTCCCTGCCTTACTTCCCCTCCCTCCCCT CCTTCCTCTCCTTCCCCTCCTCCTCCTTCCTCTCCTTCCCCTCCTTTTCC TCCTTGCTTCCCTTCCTTCCCTCATTCCCCTCCTTCCCTCCTTCACCTCC CTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTTCTT CCCTTCCTTCCCTCATTCCCCTCATTCCCCTCCTTCCCTCCTTCACCTCC CTCCCTGCCATCCCCTCTCTGCCCTCCTTCCCTCCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0116 a0001c0002t0053g0116	1	254	0.0039	-338	c.163 others(16): Show c.163-1229_163-892del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
CABLES2_chr20_62383634_62412285	62398013	GCGGTGGT others(331): Show GCGGTGGTGGTGGTGGTGACAGTGATGGTGATGGTGGTGATGGCGATGGT GGTGGTGACGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTTATGACGGTGGTGATGGTGGTGGTGGTGGTGACGGTG ATGGTGGTAATGGTGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGAT GTGATGGTGGTGGTGGTGACGGTGGTGATGATGGTGATGGTGGTGGTGAT GGTGATGGCGGTGGTGGTGGTGGTGATGGTGGCGATGGTGATGACGGTGG TGATGGCAGTGGTGGTGACGATGGTGGTGATGGTGATGA	G G	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	400	0.0025	-338	c.363 others(17): Show c.363-1759_363-1422del	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CCBE1_chr18_59425939_59702423	59590946	TAAAAAGC others(331): Show TAAAAAGCTGCTAAGTAGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA ATTAGCCGGGCGTGATGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGGGGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCACTCCCGCCTGGGCCACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(168): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18972.hp2 NA18981.hp1 NA18984.hp1 NA18984.hp2 NA18994.hp2 NA18998.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19060.hp1 NA19065.hp2 NA19070.hp1 NA19083.hp1 NA19083.hp2 NA19087.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0008 others(5): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0003c0004 a0004c0005 a0005c0006 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(60): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0003t0001 a0001c0003t0062 a0001c0008t0010 a0002c0002t0001 a0002c0002t0011 a0002c0002t0018 a0003c0004t0001 a0004c0005t0025 a0005c0006t0001 a0006c0007t0001	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0019 others(168): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0159 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0002g0016 a0001c0001t0002g0030 a0001c0001t0002g0037 a0001c0001t0002g0068 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0161 a0001c0001t0002g0169 a0001c0001t0002g0174 a0001c0001t0002g0211 a0001c0001t0002g0219 a0001c0001t0002g0225 a0001c0001t0002g0230 a0001c0001t0003g0014 a0001c0001t0003g0036 a0001c0001t0003g0040 a0001c0001t0003g0046 a0001c0001t0003g0147 a0001c0001t0003g0149 a0001c0001t0003g0176 a0001c0001t0003g0218 a0001c0001t0003g0236 a0001c0001t0003g0239 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0104 a0001c0001t0004g0108 a0001c0001t0004g0113 a0001c0001t0004g0137 a0001c0001t0004g0175 a0001c0001t0005g0007 a0001c0001t0005g0059 a0001c0001t0005g0102 a0001c0001t0005g0162 a0001c0001t0005g0179 a0001c0001t0005g0181 a0001c0001t0005g0198 a0001c0001t0006g0033 a0001c0001t0006g0130 a0001c0001t0006g0172 a0001c0001t0006g0231 a0001c0001t0007g0070 a0001c0001t0007g0100 a0001c0001t0007g0126 a0001c0001t0007g0184 a0001c0001t0007g0197 a0001c0001t0007g0228 a0001c0001t0008g0051 a0001c0001t0008g0066 a0001c0001t0008g0092 a0001c0001t0008g0203 a0001c0001t0009g0127 a0001c0001t0009g0141 a0001c0001t0009g0150 a0001c0001t0009g0153 a0001c0001t0009g0164 a0001c0001t0009g0177 a0001c0001t0009g0202 a0001c0001t0010g0004 a0001c0001t0010g0010 a0001c0001t0010g0143 a0001c0001t0010g0170 a0001c0001t0011g0087 a0001c0001t0011g0171 a0001c0001t0011g0229 a0001c0001t0012g0190 a0001c0001t0013g0041 a0001c0001t0013g0227 a0001c0001t0014g0090 a0001c0001t0014g0178 a0001c0001t0015g0085 a0001c0001t0017g0146 a0001c0001t0017g0163 a0001c0001t0018g0167 a0001c0001t0019g0021 a0001c0001t0020g0028 a0001c0001t0021g0079 a0001c0001t0021g0125 a0001c0001t0023g0192 a0001c0001t0023g0193 a0001c0001t0024g0012 a0001c0001t0026g0148 a0001c0001t0027g0151 a0001c0001t0028g0011 a0001c0001t0029g0182 a0001c0001t0032g0053 a0001c0001t0034g0128 a0001c0001t0036g0155 a0001c0001t0037g0073 a0001c0001t0038g0168 a0001c0001t0039g0160 a0001c0001t0040g0237 a0001c0001t0041g0005 a0001c0001t0042g0238 a0001c0001t0046g0093 a0001c0001t0047g0097 a0001c0001t0048g0145 a0001c0001t0050g0185 a0001c0001t0052g0201 a0001c0001t0053g0214 a0001c0001t0054g0089 a0001c0001t0056g0055 a0001c0001t0057g0152 a0001c0001t0058g0006 a0001c0001t0059g0035 a0001c0001t0060g0173 a0001c0001t0063g0120 a0001c0001t0064g0071 a0001c0001t0065g0200 a0001c0001t0066g0022 a0001c0001t0067g0029 a0001c0001t0068g0008 a0001c0003t0001g0157 a0001c0003t0062g0156 a0001c0008t0010g0009 a0002c0002t0001g0003 a0002c0002t0011g0002 a0002c0002t0018g0001 a0003c0004t0001g0015 a0004c0005t0025g0034 a0005c0006t0001g0114 a0006c0007t0001g0232	171	242	0.7066	-338	c.212 others(21): Show c.212+105345_212+105682del	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CEP170B_chr14_104860268_104901747	104861810	ACCATCAC others(331): Show ACCATCACCACCCTCTATCTCCACTGTCCATCACCACCCTCTATCTCCAC TGTCCGTGTCCACCGTCCATCACCACCCTCTATCTCCACCGTCTGTGTCC ACCGTCCATCACCACCCTCTGTCCCCACCGTCCATGTCCACTGTCCATGT CCACCGTCTATCACCACCCTCTATCTCCACTGTCCATGTCCACCATCCAT CACCACCCTCTATCTCCACTGTCCATGTCCACTGTCCATCACTACCCTCT ATCTCCACTGTTCATCACCACCCTCTATCTCCACTGTCCATCACCACCCT CTATCTCCACTGTCCATCACCACCCTCTATCTCCACTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG03041.hp1 HG03139.hp1 others(1): Show HG02109.hp2 HG03041.hp1 HG03139.hp1 NA18906.hp2	a0001 a0018 a0001 a0018	a0001c0014 a0018c0068 a0001c0014 a0018c0068	a0001c0014t0001 a0018c0068t0019 a0001c0014t0001 a0018c0068t0019	a0001c0014t0001g0017 a0001c0014t0001g0077 a0018c0068t0019g0080 a0001c0014t0001g0017 a0001c0014t0001g0077 a0018c0068t0019g0080	4	328	0.0122	-338	c.-37 others(11): Show c.-3730_-3393del	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding		3457		chr14	TogoVar
CPED1_chr7_120983711_121302442	121241042	GAAAAAGA others(331): Show GAAAAAGAAATTATAAAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG00642.hp1 others(55): Show HG00408.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp2 HG01257.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG01978.hp1 HG02056.hp1 HG02109.hp1 HG02280.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18941.hp1 NA18952.hp2 NA18998.hp2 NA19043.hp1 NA19075.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0003 a0001c0007 others(8): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0002c0002 a0003c0005 a0004c0009 a0004c0013 a0005c0011 a0005c0012 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0013 a0001c0007t0001 a0001c0008t0001 a0002c0002t0001 a0002c0002t0002 a0003c0005t0001 a0004c0009t0001 a0004c0013t0006 a0005c0011t0001 a0005c0012t0001 a0007c0014t0002	a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0057 others(55): Show a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0042 a0001c0001t0002g0051 a0001c0001t0002g0062 a0001c0001t0002g0078 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0122 a0001c0001t0002g0132 a0001c0001t0002g0138 a0001c0001t0003g0001 a0001c0001t0004g0032 a0001c0001t0004g0041 a0001c0001t0004g0077 a0001c0001t0005g0003 a0001c0001t0005g0018 a0001c0001t0005g0021 a0001c0001t0012g0130 a0001c0003t0001g0027 a0001c0003t0001g0031 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0126 a0001c0003t0002g0125 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0008g0030 a0001c0003t0008g0045 a0001c0003t0013g0009 a0001c0007t0001g0108 a0001c0008t0001g0054 a0002c0002t0001g0080 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0069 a0002c0002t0002g0102 a0002c0002t0002g0103 a0003c0005t0001g0046 a0004c0009t0001g0029 a0004c0009t0001g0050 a0004c0013t0006g0035 a0005c0011t0001g0052 a0005c0012t0001g0079 a0007c0014t0002g0072	58	140	0.4143	-338	c.217 others(19): Show c.2174-3139_2174-2802del	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CTDP1_chr18_79674803_79759503	79719692	ATGTCACC others(331): Show ATGTCACCTCCCATTAGGAAGGCGTCCTGGTGATGATGTCACCTCCCATC GTGTCCTGGTGATGCTGTCACCTCCCATCATTAGGAAGGCATCCTGGTGA TGATGTCACCTCCCATTGTGTCCTGGTGATGATGTCATCTCCTGCTGTTA GGAAGGCGTCCTGGTGATGCTGTCACCTCCCATTAGGAAGGTGTCCTGGT GATGATGTCACCTCCCATCGTGTCCTGGTGATGATGTCACCTCCCATCAT TAGGAAGGCATCCTGGTGATGATGTCACCTCCCATTGTGTCCTGGTGACG ATGTCATCTCCTGTCGTTAGGAAGGCGTCCTGGTGATGC	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	378	0.0027	-338	c.241 others(19): Show c.2417+1740_2417+2077del	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
FGF12_chr3_192134390_192732541	192138296	TGAAAACC others(331): Show TGAAAACCTTTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01074.hp2 HG01109.hp1 others(58): Show HG00597.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01934.hp1 HG01934.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02647.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18962.hp1 NA18962.hp2 NA18971.hp1 NA18971.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(28): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037	a0001c0001t0003g0059 a0001c0001t0003g0063 a0001c0001t0003g0074 others(58): Show a0001c0001t0003g0059 a0001c0001t0003g0063 a0001c0001t0003g0074 a0001c0001t0003g0077 a0001c0001t0003g0090 a0001c0001t0004g0026 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0081 a0001c0001t0004g0087 a0001c0001t0006g0046 a0001c0001t0006g0049 a0001c0001t0006g0068 a0001c0001t0006g0069 a0001c0001t0007g0027 a0001c0001t0007g0038 a0001c0001t0007g0055 a0001c0001t0007g0076 a0001c0001t0008g0053 a0001c0001t0008g0067 a0001c0001t0008g0082 a0001c0001t0008g0084 a0001c0001t0009g0025 a0001c0001t0009g0052 a0001c0001t0009g0085 a0001c0001t0010g0014 a0001c0001t0010g0032 a0001c0001t0010g0071 a0001c0001t0011g0039 a0001c0001t0011g0048 a0001c0001t0011g0065 a0001c0001t0012g0012 a0001c0001t0012g0023 a0001c0001t0013g0015 a0001c0001t0013g0036 a0001c0001t0014g0013 a0001c0001t0014g0057 a0001c0001t0015g0008 a0001c0001t0015g0064 a0001c0001t0016g0035 a0001c0001t0016g0060 a0001c0001t0017g0009 a0001c0001t0017g0016 a0001c0001t0018g0002 a0001c0001t0018g0024 a0001c0001t0022g0028 a0001c0001t0023g0088 a0001c0001t0024g0083 a0001c0001t0025g0021 a0001c0001t0026g0072 a0001c0001t0027g0047 a0001c0001t0028g0033 a0001c0001t0029g0004 a0001c0001t0030g0073 a0001c0001t0031g0042 a0001c0001t0032g0079 a0001c0001t0033g0011 a0001c0001t0034g0080 a0001c0001t0035g0041 a0001c0001t0036g0006 a0001c0001t0037g0066	61	90	0.6778	-338	c.53 others(11): Show c.5375_*5712del	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding		1093		chr3	TogoVar
FUT5_chr19_5860826_5875540	5871329	CATCCCAG others(331): Show CATCCCAGCACTTTGGGAGGCTGAGGCGGGAGGATCACCTGAGGTCAGGA GTTCGAGACAAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAT ATAAAAATTAGCTGGGCATGGTGGTGCACACCTGTAATCCCAGCTACTCA AGAGGCTGAGGCAGAAGACTCACTTCAACCCAGGAGGCAGAGGCTGCAGT GAGCAACAAGAGCAAAACTCTCTCTCATAAAAAAAAAAAAAAAGCCTAAA TGGTGAAGTTTATGTTATACATATATGTATGGATATATGGAATTACAATT TAAAAATAAGGTGGCTGGGCGCGGTGGCTCACACCTGTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0068 a0003c0003t0003g0068	1	452	0.0022	-338	c.-12 others(10): Show c.-1215_-878del	FUT5	ENSG00000130383.7	transcript	ENST00000588525.1	protein_coding		790		chr19	TogoVar
HSD17B3_chr9_96230306_96307176	96300300	CCCAAACA others(331): Show CCCAAACAATTTCTCACACGGTAATTTTTTTAATTTCCATTGCTAAGTTT TTAAGGTTGCCAGGTTTAGCAAATAAGGATACAGAATGCCCACTTAAATT TGAAATTAAGGTAAATTATGAATTGTTTAATGCATGTCTCATGCCATATG TGAGTTATACTAAAAAAGTATTCCTTTTTTTCTGAAATTTAAATTTAACT GGGTATCCTGTATTTTATCTGGCAGCCCTATAAGCATATTAGAATCTTTC CTATTTTGCCTAGATAATATCTCTAAAGTCACTTAATCATTTTTGTCATT GGATTCTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00609.hp1 others(81): Show HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00642.hp2 HG00733.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01934.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02148.hp2 HG02257.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp2 HG02717.hp1 HG02735.hp2 HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03471.hp2 HG03486.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp1 NA18975.hp1 NA18982.hp1 NA18989.hp1 NA18991.hp2 NA19000.hp2 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp2 NA19086.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0004c0004t0002	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(81): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0280 a0002c0002t0002g0284 a0002c0002t0002g0288 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0305 a0002c0002t0002g0314 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0324 a0002c0002t0002g0325 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0328 a0002c0002t0002g0353 a0002c0002t0002g0354 a0004c0004t0002g0374	84	374	0.2246	-338	c.154 others(17): Show c.154+1313_154+1650del	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	1/10			chr9	TogoVar
LUC7L_chr16_183990_234449	186848	GGGGGAAC others(331): Show GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	350	0.0029	-338	c.20 others(11): Show c.2012_*2349del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2141		chr16	TogoVar
LYPD8_chr1_248734415_248760759	248747351	GCACCCAC others(331): Show GCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCG CCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCA CCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCAC GGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGG CATCCCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGC ACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCGCC CGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGC	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02572.hp2 HG02165.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0059 a0001c0001t0002g0054 a0001c0001t0002g0059	2	374	0.0054	-338	c.337 others(15): Show c.337+600_337+937del	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
NEU4_chr2_241804193_241822413	241806384	CTCCCCCC others(331): Show CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0156 a0001c0004t0001g0156	1	319	0.0031	-338	c.-28 others(11): Show c.-2893_-2556del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2808		chr2	TogoVar
NOL4_chr18_33846100_34229913	34166747	TAAAAAAA others(331): Show TAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGG CTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGG GCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGTGC CACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAGTA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02486.hp1 others(2): Show HG01109.hp1 HG02145.hp2 HG02486.hp1 NA18941.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0011 a0001c0003t0001 a0001c0001t0001 a0001c0001t0011 a0001c0003t0001	a0001c0001t0001g0122 a0001c0001t0001g0135 a0001c0001t0001g0137 others(2): Show a0001c0001t0001g0122 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0011g0165 a0001c0003t0001g0129	5	168	0.0298	-338	c.265 others(19): Show c.265-37065_265-36728del	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	1/10			chr18	TogoVar
PPA2_chr4_105364077_105479062	105448922	CAAATTTA others(331): Show CAAATTTAAAATATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAAAATAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01081.hp1 HG01099.hp2 others(24): Show HG01070.hp2 HG01081.hp1 HG01099.hp2 HG01515.hp1 HG02004.hp1 HG02280.hp1 HG02602.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 NA19030.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0007t0002	a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 others(23): Show a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0002g0005 a0001c0001t0002g0038 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0172 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0219 a0001c0001t0003g0220 a0003c0007t0002g0338 a0003c0007t0002g0339	27	366	0.0738	-338	c.321 others(14): Show c.321+90_321+427del	PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding	4/11			chr4	TogoVar
PPP1R13B_chr14_103728195_103852575	103841404	GCGGTGAA others(331): Show GCGGTGAAACTCCATCTCTACTAAAAATACAAAAAAATTAGCCAGGCATG GTGGCGGGCGCCTGTAATCCCAGCTACTCAGGACGCTGAGGTGGGAGAAT CGCTTGAGCCCTGTAGGCAGAGATGGCAGTGAGCCGAGATCACACCACTG CACTCCAGCCTGGGCAACAGGTCAACACTCCAACTCAAAAAGAAAAAAAA AGAAAAAAAAATTTTTTTAAATATTGTCCTGTCTTTGGTGTTTGTTTACT GAATTAGGCTGTAAAATCAAGCTTATCAAGTCACCTAATTCTTAATTAAA AAATAGTAGCAAACATTTACTGAGCTCTTACTATCTGCT	G G	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0314	1	332	0.0030	-338	c.9+5 others(13): Show c.9+5557_9+5894del	PPP1R13B	ENSG00000088808.18	transcript	ENST00000202556.14	protein_coding	1/16			chr14	TogoVar
RORA_chr15_60483284_61234302	60816082	GTATACTG others(331): Show GTATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGTAT TTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGT ATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATAT GTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTAT ATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGT ATATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACA GTATATGTATTTATATACTGTAAACAGTATATGTATTTA	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02717.hp2 HG03471.hp1 HG01169.hp2 HG02717.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0018 a0001c0001t0001 a0001c0001t0011 a0001c0001t0018	a0001c0001t0001g0035 a0001c0001t0011g0021 a0001c0001t0018g0026 a0001c0001t0001g0035 a0001c0001t0011g0021 a0001c0001t0018g0026	3	118	0.0254	-338	c.167 others(21): Show c.167-137734_167-137397del	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
SLC5A12_chr11_26662020_26727060	26676870	TGCCGTAT others(331): Show TGCCGTATTTTATCTGGAAGAAGTATAATTGAAGACATCACCTATTAAGA CCAAACAAGACCAAGATAAAATATGACACAAGGAGAACAGGCCCACAAAA GGCCTCTGTCCTTCCTTACTGACCCTATTCTACATTTAAACATTGTAAGA CTTTTTAAAAGATTCAGTGGGTATTACAGAAGATTTGTTAAAGCCTCTTA GTGAGCAGACCTGAGGTTATCAGGCTAGCCCTAAGGCCTCATTTGGAAGA CAGGGACCAGGAGGCAAGAACATCTGGTGGTCATGTTCAAAAATTTTTCC AAATGTTTGAAGGCATAATTAGACTTTGTTAGAGTGTTC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0076 a0001c0023t0076	a0001c0023t0076g0065 a0001c0023t0076g0065	1	412	0.0024	-338	c.157 others(19): Show c.1579+1504_1579+1841del	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	13/14			chr11	TogoVar
SLCO1C1_chr12_20690332_20758386	20709585	TAAGAATT others(331): Show TAAGAATTGAAAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00544.hp1 others(185): Show HG00099.hp1 HG00099.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01884.hp1 HG01891.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18999.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19030.hp1 NA19058.hp1 NA19058.hp2 NA19066.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0013 a0001c0015 a0001c0016 a0001c0017 a0001c0020 a0001c0021 a0001c0022 a0002c0007 a0003c0012 a0005c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(27): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0002t0002 a0001c0002t0006 a0001c0002t0011 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0004t0001 a0001c0004t0003 a0001c0005t0002 a0001c0005t0006 a0001c0006t0001 a0001c0006t0008 a0001c0009t0002 a0001c0013t0001 a0001c0015t0001 a0001c0016t0001 a0001c0017t0001 a0001c0020t0009 a0001c0021t0001 a0001c0022t0002 a0002c0007t0001 a0002c0007t0004 a0003c0012t0001 a0005c0019t0002	a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0028 others(181): Show a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0202 a0001c0001t0001g0271 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0078 a0001c0001t0003g0081 a0001c0001t0003g0113 a0001c0001t0003g0148 a0001c0001t0003g0162 a0001c0001t0003g0174 a0001c0001t0003g0199 a0001c0001t0004g0029 a0001c0001t0004g0101 a0001c0001t0004g0132 a0001c0001t0004g0168 a0001c0001t0004g0285 a0001c0001t0010g0022 a0001c0001t0013g0142 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0030 a0001c0002t0002g0034 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0044 a0001c0002t0002g0046 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0057 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0077 a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0098 a0001c0002t0002g0100 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0120 a0001c0002t0002g0122 a0001c0002t0002g0124 a0001c0002t0002g0127 a0001c0002t0002g0140 a0001c0002t0002g0143 a0001c0002t0002g0145 a0001c0002t0002g0149 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0159 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0171 a0001c0002t0002g0175 a0001c0002t0002g0181 a0001c0002t0002g0189 a0001c0002t0002g0194 a0001c0002t0002g0198 a0001c0002t0002g0282 a0001c0002t0006g0147 a0001c0002t0011g0083 a0001c0003t0001g0023 a0001c0003t0001g0032 a0001c0003t0001g0099 a0001c0003t0001g0119 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0167 a0001c0003t0001g0170 a0001c0003t0001g0286 a0001c0003t0001g0289 a0001c0003t0003g0054 a0001c0003t0003g0195 a0001c0003t0003g0196 a0001c0003t0004g0166 a0001c0003t0007g0017 a0001c0003t0007g0018 a0001c0004t0001g0033 a0001c0004t0001g0041 a0001c0004t0001g0086 a0001c0004t0001g0088 a0001c0004t0001g0094 a0001c0004t0001g0105 a0001c0004t0001g0118 a0001c0004t0001g0146 a0001c0004t0001g0153 a0001c0004t0003g0040 a0001c0004t0003g0080 a0001c0004t0003g0150 a0001c0004t0003g0155 a0001c0004t0003g0156 a0001c0004t0003g0180 a0001c0005t0002g0042 a0001c0005t0002g0043 a0001c0005t0002g0047 a0001c0005t0002g0064 a0001c0005t0002g0095 a0001c0005t0002g0108 a0001c0005t0002g0137 a0001c0005t0002g0193 a0001c0005t0002g0200 a0001c0005t0006g0169 a0001c0006t0001g0005 a0001c0006t0001g0082 a0001c0006t0001g0144 a0001c0006t0001g0190 a0001c0006t0001g0192 a0001c0006t0008g0039 a0001c0006t0008g0201 a0001c0009t0002g0085 a0001c0009t0002g0097 a0001c0009t0002g0125 a0001c0013t0001g0241 a0001c0015t0001g0191 a0001c0016t0001g0050 a0001c0017t0001g0038 a0001c0020t0009g0016 a0001c0021t0001g0157 a0001c0022t0002g0115 a0002c0007t0001g0062 a0002c0007t0004g0006 a0003c0012t0001g0126 a0003c0012t0001g0128 a0005c0019t0002g0073	188	296	0.6351	-338	c.405 others(17): Show c.405-1785_405-1448del	SLCO1C1	ENSG00000139155.9	transcript	ENST00000266509.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SNTG2_chr2_945849_1372613	1344181	CCCCTGTT others(331): Show CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGA CAGTGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATG CATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCC CAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGG GAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0153 a0005c0015t0001g0153	1	190	0.0053	-338	c.148 others(21): Show c.1489-23158_1489-22821del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1344294	CCCCTGTT others(331): Show CCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGTGGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGA CAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATG CATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCC CAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGG GAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	190	0.0053	-338	c.148 others(21): Show c.1489-23045_1489-22708del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORBS2_chr4_185580523_185817194	185704385	CTCGGCTC others(331): Show CTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCTCTTCTCCTGCCT CAGCCTCCTGAGCAGCTGGGATCGCAGGCATGCACCATCACACCTGGCTA ATTTTTGCACTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTAG TCTCGAGTTCCTGACCTCAGGTGATCCACCCCCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCATTCATTCATTATTC AATTCATTAATCAAAAAGTTTGAGAGCCCATTCTACTCCACAAATTACCC TGGATGTTCCCTCTCCCTCAACTCTCCATGTTTTGAGAA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0001 a0001c0001t0033g0001	1	312	0.0032	-338	c.-40 others(19): Show c.-40-14112_-40-13775del	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	3/26			chr4	TogoVar
SYPL1_chr7_106085505_106117312	106093544	GCACCCCA others(331): Show GCACCCCAATCCTAAAACTCCTTTGACCCCACCAAGACCTACAATCTGAT CCTACTGCTTTCTTACTGTATCACCACTTCACTAATGTCCTCACTTATTT TAATCAATTTCTGTTCTAAGGGCCTTCATTATCATCTCTTGCACATACTC TCAACTCACTTATCCTTCTTCTGCAAAACTCTAACTTTAGTTAAACCAAA TTCTCCATGAGATGGATAATAAAATGGTGAAAAGCACACACCAGAATGGT ATCTCTTTTAAATTTCCTAACCACAAATTTTAAGAATGCTCACTATATTA AGAAAAAGGCAACAACAAAAATCTCCCAAGACACCTTAT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp2 others(110): Show HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01515.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02735.hp1 HG02738.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18956.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19072.hp1 NA19075.hp2 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19089.hp2 NA19091.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0012 others(47): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0173 a0001c0001t0002g0044 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0004g0077	113	398	0.2839	-338	c.403 others(15): Show c.403-745_403-408del	SYPL1	ENSG00000008282.10	transcript	ENST00000455385.7	protein_coding	3/4			chr7	TogoVar
THSD4_chr15_71110471_71788383	71593136	GCCTGTAG others(331): Show GCCTGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCT AAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG TAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGA ATAGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCAC TGCACTCCAGCCTGGGCGACAGAGAGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(85): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04228.hp2 HG06807.hp1 NA18966.hp1 NA18966.hp2 NA18981.hp1 NA18981.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0016 a0001c0019 a0001c0021 a0002c0005 a0002c0011 a0002c0012 a0003c0010 a0004c0014 a0004c0018 a0006c0013 a0007c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(63): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0014 a0001c0002t0024 a0001c0002t0035 a0001c0002t0040 a0001c0002t0043 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0009 a0001c0003t0014 a0001c0003t0031 a0001c0004t0005 a0001c0004t0007 a0001c0004t0008 a0001c0004t0017 a0001c0004t0025 a0001c0004t0026 a0001c0004t0029 a0001c0004t0044 a0001c0006t0001 a0001c0006t0005 a0001c0006t0007 a0001c0006t0017 a0001c0007t0001 a0001c0007t0015 a0001c0008t0002 a0001c0008t0005 a0001c0009t0006 a0001c0009t0013 a0001c0016t0002 a0001c0019t0003 a0001c0021t0004 a0002c0005t0002 a0002c0005t0003 a0002c0005t0004 a0002c0011t0004 a0002c0012t0004 a0003c0010t0015 a0003c0010t0027 a0004c0014t0038 a0004c0018t0006 a0006c0013t0001 a0007c0022t0032	a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0033 others(85): Show a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0067 a0001c0001t0001g0087 a0001c0001t0002g0075 a0001c0001t0002g0102 a0001c0001t0003g0022 a0001c0001t0003g0046 a0001c0001t0004g0101 a0001c0001t0006g0021 a0001c0001t0008g0037 a0001c0001t0008g0060 a0001c0001t0009g0085 a0001c0001t0010g0053 a0001c0001t0010g0055 a0001c0001t0011g0001 a0001c0001t0011g0028 a0001c0001t0011g0094 a0001c0001t0012g0049 a0001c0001t0012g0054 a0001c0001t0018g0115 a0001c0001t0020g0036 a0001c0001t0021g0005 a0001c0001t0022g0056 a0001c0001t0036g0089 a0001c0001t0037g0106 a0001c0001t0039g0011 a0001c0002t0001g0090 a0001c0002t0002g0012 a0001c0002t0002g0018 a0001c0002t0002g0043 a0001c0002t0002g0073 a0001c0002t0003g0111 a0001c0002t0005g0045 a0001c0002t0006g0026 a0001c0002t0006g0066 a0001c0002t0009g0077 a0001c0002t0009g0091 a0001c0002t0014g0007 a0001c0002t0024g0019 a0001c0002t0035g0017 a0001c0002t0040g0013 a0001c0002t0043g0076 a0001c0003t0001g0034 a0001c0003t0002g0050 a0001c0003t0003g0071 a0001c0003t0003g0108 a0001c0003t0009g0057 a0001c0003t0014g0116 a0001c0003t0031g0064 a0001c0004t0005g0100 a0001c0004t0005g0109 a0001c0004t0007g0062 a0001c0004t0008g0051 a0001c0004t0017g0032 a0001c0004t0025g0069 a0001c0004t0026g0061 a0001c0004t0029g0086 a0001c0004t0044g0029 a0001c0006t0001g0063 a0001c0006t0005g0068 a0001c0006t0007g0030 a0001c0006t0017g0095 a0001c0007t0001g0008 a0001c0007t0015g0027 a0001c0008t0002g0099 a0001c0008t0005g0083 a0001c0009t0006g0015 a0001c0009t0013g0039 a0001c0016t0002g0072 a0001c0019t0003g0093 a0001c0021t0004g0010 a0002c0005t0002g0044 a0002c0005t0003g0114 a0002c0005t0004g0065 a0002c0005t0004g0107 a0002c0005t0004g0113 a0002c0011t0004g0048 a0002c0012t0004g0047 a0003c0010t0015g0002 a0003c0010t0027g0088 a0004c0014t0038g0016 a0004c0018t0006g0058 a0006c0013t0001g0038 a0007c0022t0032g0014	88	116	0.7586	-338	c.115 others(21): Show c.1153-67387_1153-67050del	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
TMEM63C_chr14_77176798_77264495	77220885	CCGCCTCC others(331): Show CCGCCTCCCACTCACGCCCCGCCTCCCACTCACGCCTCCTCTCCCACCCA CGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACTCTCGCCTCCCCTCCCA CCCACGCCCCCTCCCACTCTCGCCTCCCCTCCCACTCTCGCCTCCCCTCC CACCCACGCCCCCTCACACTCACGCCTCCCCTCCCACTCTCGCCTCCCCT CCCACTCATGCCCTGCCTCCCACTCACGCCTCCTCTCTCACTTACACCCC ACCTCCCACTCACGCCTCCCCTCCCACTCATGCCCCACCTCCCACTCACA CCTCCTCTCTCATTCACACCCCGCCTCCCACTCACGCCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0287 a0001c0002t0002g0287	1	322	0.0031	-338	c.312 others(16): Show c.312+800_312+1137del	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77220905	GCCTCCCA others(331): Show GCCTCCCACTCACGCCTCCTCTCCCACCCACGCCTCCCCTCCCACTCTCG CCTCCCCTCCCACTCTCGCCTCCCCTCCCACCCACGCCCCCTCCCACTCT CGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACCCACGCCCCCTCACACT CACGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACTCATGCCCTGCCTCC CACTCACGCCTCCTCTCTCACTTACACCCCACCTCCCACTCACGCCTCCC CTCCCACTCATGCCCCACCTCCCACTCACACCTCCTCTCTCATTCACACC CCGCCTCCCACTCACGCCTCCCCTCCCACTCACGCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01952.hp1 HG01981.hp1 others(3): Show HG01123.hp1 HG01952.hp1 HG01981.hp1 HG02273.hp2 HG03704.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0002t0039 a0001c0003t0001 others(2): Show a0001c0002t0005 a0001c0002t0039 a0001c0003t0001 a0001c0003t0005 a0001c0003t0016	a0001c0002t0005g0231 a0001c0002t0039g0156 a0001c0003t0001g0150 others(3): Show a0001c0002t0005g0231 a0001c0002t0039g0156 a0001c0003t0001g0150 a0001c0003t0005g0149 a0001c0003t0005g0177 a0001c0003t0016g0155	6	322	0.0186	-338	c.312 others(16): Show c.312+834_312+1171del	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TPO_chr2_1408463_1548673	1534271	CCCAATAT others(331): Show CCCAATATGAGCAACCTCCTCACATCCCCCTCGCTGTGCGCAACCTCATC AAATTTTCCCACTGTGTGCAACTTCCCTAAGTCGTCCAACTGTGTTCAAC CTCCCCAAATCCCTCCAACTGTGTGCAACCTCCCCAAATCCGCCCCCACC CTGTGCAGCCTCACAAAATTACCCCCAGTGCAATCTCAAATCCCTCCCAC TCTGTGCAAACTCCCCAAACCCCCCACGCAGTGTGCAACTTCCCCAAATC CCTCCCACTCTGTGCAACCTCCCCAAATCCCTACCACTCTGTGCAACTTC CCCAAATCCGCCCACACTGTGCAACCGCACCAAATCGCG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG02080.hp2 others(12): Show HG00408.hp2 HG00423.hp1 HG02080.hp2 HG03654.hp2 HG04204.hp2 NA18612.hp2 NA18985.hp1 NA18998.hp1 NA19010.hp2 NA19011.hp2 NA19058.hp2 NA19088.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0019	a0001c0001 a0002c0015 a0003c0003 others(3): Show a0001c0001 a0002c0015 a0003c0003 a0003c0006 a0004c0005 a0019c0024	a0001c0001t0005 a0002c0015t0004 a0003c0003t0004 others(5): Show a0001c0001t0005 a0002c0015t0004 a0003c0003t0004 a0003c0003t0005 a0003c0006t0004 a0003c0006t0011 a0004c0005t0005 a0019c0024t0005	a0001c0001t0005g0073 a0002c0015t0004g0112 a0003c0003t0004g0016 others(11): Show a0001c0001t0005g0073 a0002c0015t0004g0112 a0003c0003t0004g0016 a0003c0003t0004g0035 a0003c0003t0004g0051 a0003c0003t0005g0001 a0003c0003t0005g0043 a0003c0006t0004g0096 a0003c0006t0004g0097 a0003c0006t0004g0100 a0003c0006t0004g0103 a0003c0006t0011g0085 a0004c0005t0005g0071 a0019c0024t0005g0009	15	130	0.1154	-338	c.261 others(19): Show c.2619-6319_2619-5982del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPM4_chr19_49152792_49216836	49166595	CCTCTCTC others(331): Show CCTCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTCTGGGTCTCTGTCCCCG TCTCTCCGGGTCTCTGTTTCCCCTTTTCTGTGGGTCACTGTCCTCATCTC TTTGGGTCTGTGTTTCCGCTTTTCTCTGTGTCTCTGTCCCCGTCTCTCTG GGTCTCTGTCTCTGTCTCTCTGGGTCTCTGTCTCTGTCTCTCTGGGCCTC TGTTTCCCCTTTTCTCTGTGTCTCTGTCCCCGTCTCTCTGGGTCTCTGTC TTCCTCTCTCTGGGTCTGTTTCCCCCTCTCTCTGGGTCTCTGTCCCCATC TCTCTGGGTCTCTGTCTGTTTCTCCGGGTCTCCGTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	312	0.0032	-338	c.267 others(15): Show c.267+381_267+718del	TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding	3/24			chr19	TogoVar
ACYP2_chr2_53966113_54310300	54146454	TATTACAG others(330): Show TATTACAGACTGGATTTTACCCTGTTGGCCAGTCTGGTCTTGAACCCCTG GCCTCAAGTGATCCGCCTGCCATGGCCTCCCAAAGTGCTGGGATTACAGG TGTGAGCCACCATGCCCGGCCCCTGATTTTAAACTTTTCTCACCTAGTTT CCATTTGTTATTATGTGGGAAATTAGCTCAACTTTGTCTTCCAACCTTTC TATTATTTTTGTTTGTTTCTGCTGCTCTATCTTAATTGTTTCTCTTTCAT AGCATCTCATTCTTGTTGTTGTTTTCCCCAAATCTCTCTGAGGATATTAT GTGTATCTTTCTTTTCAAAGTATTCTTCTGATTTTTGC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0107 a0001c0002t0002g0107	1	272	0.0037	-337	c.404 others(17): Show c.404+7710_404+8046del	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
AMPH_chr7_38378704_38636373	38473406	TAAAAGTA others(330): Show TAAAAGTATTCCATGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(138): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18945.hp2 NA18946.hp1 NA18951.hp1 NA18951.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18988.hp2 NA18999.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19066.hp1 NA19076.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0009 a0001c0017 a0001c0019 a0002c0004 a0002c0008 a0003c0006 a0003c0010 a0006c0014 a0007c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0005t0004 a0001c0005t0006 a0001c0007t0005 a0001c0007t0008 a0001c0009t0006 a0001c0017t0004 a0001c0019t0003 a0002c0004t0001 a0002c0004t0003 a0002c0004t0005 a0002c0008t0002 a0002c0008t0003 a0003c0006t0003 a0003c0006t0004 a0003c0010t0002 a0006c0014t0005 a0007c0018t0004	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0056 others(138): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0091 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0215 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0002g0095 a0001c0001t0003g0016 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0039 a0001c0001t0003g0047 a0001c0001t0003g0050 a0001c0001t0003g0060 a0001c0001t0003g0065 a0001c0001t0003g0069 a0001c0001t0003g0074 a0001c0001t0003g0096 a0001c0001t0003g0103 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0122 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0142 a0001c0001t0003g0148 a0001c0001t0003g0158 a0001c0001t0003g0178 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0189 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0197 a0001c0001t0003g0201 a0001c0001t0003g0206 a0001c0001t0003g0209 a0001c0001t0003g0216 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0231 a0001c0001t0003g0236 a0001c0001t0003g0242 a0001c0001t0003g0250 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0285 a0001c0001t0003g0288 a0001c0001t0004g0006 a0001c0001t0004g0012 a0001c0001t0004g0024 a0001c0001t0004g0045 a0001c0001t0004g0054 a0001c0001t0004g0086 a0001c0001t0004g0092 a0001c0001t0004g0141 a0001c0001t0004g0256 a0001c0001t0004g0276 a0001c0001t0005g0034 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0006g0277 a0001c0001t0009g0151 a0001c0002t0002g0044 a0001c0002t0002g0145 a0001c0002t0002g0191 a0001c0002t0002g0233 a0001c0003t0001g0284 a0001c0005t0001g0120 a0001c0005t0001g0166 a0001c0005t0001g0257 a0001c0005t0001g0271 a0001c0005t0004g0013 a0001c0005t0004g0022 a0001c0005t0004g0139 a0001c0005t0004g0162 a0001c0005t0006g0126 a0001c0005t0006g0128 a0001c0005t0006g0157 a0001c0007t0005g0076 a0001c0007t0005g0105 a0001c0007t0005g0222 a0001c0007t0005g0229 a0001c0007t0005g0263 a0001c0007t0008g0283 a0001c0009t0006g0019 a0001c0009t0006g0077 a0001c0009t0006g0227 a0001c0017t0004g0080 a0001c0019t0003g0198 a0002c0004t0001g0167 a0002c0004t0003g0188 a0002c0004t0005g0029 a0002c0004t0005g0051 a0002c0004t0005g0070 a0002c0004t0005g0100 a0002c0004t0005g0143 a0002c0004t0005g0150 a0002c0004t0005g0168 a0002c0004t0005g0175 a0002c0004t0005g0184 a0002c0004t0005g0193 a0002c0004t0005g0214 a0002c0004t0005g0243 a0002c0004t0005g0249 a0002c0004t0005g0251 a0002c0004t0005g0264 a0002c0004t0005g0265 a0002c0004t0005g0269 a0002c0008t0002g0111 a0002c0008t0002g0116 a0002c0008t0002g0134 a0002c0008t0002g0179 a0002c0008t0002g0181 a0002c0008t0002g0208 a0002c0008t0003g0187 a0003c0006t0003g0245 a0003c0006t0004g0083 a0003c0006t0004g0084 a0003c0006t0004g0085 a0003c0006t0004g0088 a0003c0006t0004g0138 a0003c0010t0002g0046 a0006c0014t0005g0123 a0007c0018t0004g0140	141	288	0.4896	-337	c.590 others(17): Show c.590+1588_590+1924del	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	7/20			chr7	TogoVar
ATP12A_chr13_24675408_24717472	24696408	TAGAAAGG others(330): Show TAGAAAGGGGAGAGGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAAAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02280.hp1 HG02970.hp2 others(4): Show HG01109.hp2 HG02280.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG06807.hp1 NA19058.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0006c0018	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0006c0018t0005	a0001c0001t0001g0182 a0001c0002t0001g0126 a0001c0003t0001g0288 others(3): Show a0001c0001t0001g0182 a0001c0002t0001g0126 a0001c0003t0001g0288 a0001c0003t0004g0034 a0006c0018t0005g0246 a0006c0018t0005g0247	7	382	0.0183	-337	c.151 others(19): Show c.1512+1847_1513-1897del	ATP12A	ENSG00000075673.12	transcript	ENST00000381946.5	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
CACNA2D1_chr7_81941444_82448777	82099411	AGCAATAC others(330): Show AGCAATACCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00639.hp1 HG01069.hp1 others(51): Show HG00621.hp1 HG00639.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01243.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01975.hp1 HG02027.hp1 HG02109.hp2 HG02148.hp2 HG02258.hp2 HG02559.hp1 HG02572.hp1 HG02683.hp1 HG02683.hp2 HG02818.hp2 HG02886.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp1 HG04115.hp1 HG04184.hp1 NA18952.hp1 NA18960.hp2 NA18961.hp1 NA18968.hp2 NA18981.hp2 NA18986.hp2 NA18995.hp1 NA19002.hp2 NA19007.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19066.hp2 NA19070.hp2 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0019 a0001c0003t0001 a0001c0006t0013 a0001c0007t0003 a0002c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0037 a0001c0001t0001g0038 others(51): Show a0001c0001t0001g0001 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0070 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0103 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0003g0007 a0001c0001t0003g0086 a0001c0001t0004g0002 a0001c0001t0004g0029 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0053 a0001c0001t0005g0099 a0001c0001t0005g0111 a0001c0001t0005g0123 a0001c0001t0006g0112 a0001c0001t0006g0121 a0001c0001t0006g0125 a0001c0001t0007g0015 a0001c0001t0007g0081 a0001c0001t0007g0085 a0001c0001t0008g0023 a0001c0001t0009g0065 a0001c0001t0009g0080 a0001c0001t0011g0066 a0001c0001t0016g0019 a0001c0001t0017g0091 a0001c0001t0021g0113 a0001c0001t0022g0117 a0001c0001t0023g0144 a0001c0002t0001g0018 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0054 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0002g0095 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0010g0092 a0001c0002t0019g0107 a0001c0003t0001g0061 a0001c0006t0013g0069 a0001c0007t0003g0075 a0002c0005t0002g0134	54	144	0.3750	-337	c.527 others(19): Show c.527-14848_527-14512del	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	6/38			chr7	TogoVar
CRTAC1_chr10_97860000_98035621	97983249	GTCATCCC others(330): Show GTCATCCCACTCACCCATAAATACTTAGTGAGCACCTACACTGTGCTTAC ATTCAAGAAGACAGGTTTAGAGAGGTTAAATAATCTGTCCAAGGTCAGAC AGACAGTTAAAGCCAAGACATCTACTGAAAAACTAGCATTTCAATTTTTT ATGACAAGAGATAGAAAAAGAATGTTTGACAGAAATGAGTTACAGAACAA ATAAATAATCCAAGACTGTCTTAGAGCCTGCCAAAAGTAGAGATTCTCCT CTCCCTCCCCTCATTGGGTTGTGCTCTTTTGATCACAAAGAGATAGAAAT TTCAAGACACCAAGGGACAGAAATCAATTCTGAGAGCT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG02622.hp1 others(6): Show HG01891.hp1 HG02280.hp1 HG02622.hp1 HG02717.hp2 HG03041.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0017 a0001c0001 a0001c0004 a0004c0017	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0006 a0004c0017t0004	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0124 others(6): Show a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0124 a0001c0001t0002g0029 a0001c0004t0001g0023 a0001c0004t0001g0024 a0001c0004t0001g0027 a0001c0004t0006g0126 a0004c0017t0004g0030	9	204	0.0441	-337	c.224 others(19): Show c.224+27552_224+27888del	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	2/14			chr10	TogoVar
CWC27_chr5_64763930_65023750	64990227	AGAGTTTT others(330): Show AGAGTTTTTATTTGTTTTTTTTTTGTTTTTTTTTTTTTTGTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTATCACCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT TCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(108): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01884.hp1 HG01943.hp1 HG01978.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp2 NA18952.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18973.hp2 NA18978.hp2 NA18989.hp2 NA18994.hp2 NA18998.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19074.hp2 NA19086.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0002c0004 a0002c0006 a0002c0010 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0001c0003t0002 a0001c0007t0002 a0002c0004t0001 a0002c0004t0002 a0002c0006t0001 a0002c0006t0002 a0002c0010t0002 a0004c0009t0001	a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0081 others(108): Show a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0002g0073 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0109 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0171 a0001c0001t0002g0234 a0001c0001t0002g0257 a0001c0001t0003g0072 a0001c0001t0004g0209 a0001c0003t0001g0240 a0001c0003t0001g0254 a0001c0003t0001g0255 a0001c0003t0001g0256 a0001c0003t0002g0014 a0001c0003t0002g0084 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0003t0002g0169 a0001c0003t0002g0170 a0001c0003t0002g0172 a0001c0003t0002g0198 a0001c0003t0002g0214 a0001c0003t0002g0227 a0001c0003t0002g0233 a0001c0007t0002g0181 a0001c0007t0002g0182 a0001c0007t0002g0189 a0001c0007t0002g0211 a0002c0004t0001g0249 a0002c0004t0002g0002 a0002c0004t0002g0003 a0002c0004t0002g0004 a0002c0004t0002g0005 a0002c0004t0002g0006 a0002c0004t0002g0075 a0002c0004t0002g0077 a0002c0004t0002g0093 a0002c0006t0001g0027 a0002c0006t0001g0111 a0002c0006t0001g0123 a0002c0006t0001g0243 a0002c0006t0002g0008 a0002c0006t0002g0013 a0002c0006t0002g0064 a0002c0006t0002g0074 a0002c0006t0002g0164 a0002c0006t0002g0258 a0002c0010t0002g0235 a0004c0009t0001g0229	111	260	0.4269	-337	c.125 others(21): Show c.1256+13006_1256+13342del	CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1084959	CTGAAAGT others(330): Show CTGAAAGTGCTGACATTACAGGCAATATGCCTATGCCTGGCCCATTATTA TTATTGTTGTTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCT ATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGTTGAAAGTGCTGAG ATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTT GTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATT ATTATTATTATTGTTGTTGTTGAAAGTGCTGCGATTACAGGCAATATGCC TATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0153 a0001c0001t0061g0153	1	162	0.0062	-337	c.108 others(19): Show c.1086+1392_1086+1728del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar

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Search Results (Total: 10000 hits)