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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TMEM132D_chr12_129066726_129909025	129575742	GCAGATAG others(324): Show GCAGATAGATACATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(79): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0010 a0001c0013 a0001c0014 a0001c0016 a0002c0003 a0003c0005 a0004c0017 a0005c0011 a0006c0015 a0007c0012 a0008c0009 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0027 a0001c0002t0001 a0001c0002t0004 a0001c0002t0011 a0001c0002t0018 a0001c0004t0001 a0001c0004t0006 a0001c0004t0008 a0001c0006t0002 a0001c0007t0004 a0001c0007t0019 a0001c0010t0005 a0001c0013t0017 a0001c0014t0001 a0001c0016t0003 a0002c0003t0001 a0002c0003t0009 a0002c0003t0026 a0003c0005t0001 a0003c0005t0023 a0004c0017t0001 a0005c0011t0001 a0006c0015t0024 a0007c0012t0003 a0008c0009t0002 a0009c0008t0004	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(79): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0059 a0001c0001t0001g0082 a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0068 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0003g0020 a0001c0001t0003g0040 a0001c0001t0003g0050 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0004g0070 a0001c0001t0005g0037 a0001c0001t0005g0042 a0001c0001t0005g0056 a0001c0001t0005g0071 a0001c0001t0006g0007 a0001c0001t0006g0051 a0001c0001t0006g0067 a0001c0001t0007g0006 a0001c0001t0007g0014 a0001c0001t0007g0029 a0001c0001t0010g0034 a0001c0001t0010g0048 a0001c0001t0012g0002 a0001c0001t0015g0005 a0001c0001t0016g0072 a0001c0001t0021g0044 a0001c0001t0022g0086 a0001c0001t0025g0091 a0001c0001t0027g0094 a0001c0002t0001g0010 a0001c0002t0001g0024 a0001c0002t0001g0030 a0001c0002t0001g0052 a0001c0002t0001g0074 a0001c0002t0004g0009 a0001c0002t0004g0011 a0001c0002t0004g0023 a0001c0002t0004g0077 a0001c0002t0011g0001 a0001c0002t0018g0066 a0001c0004t0001g0036 a0001c0004t0001g0046 a0001c0004t0001g0057 a0001c0004t0001g0060 a0001c0004t0006g0049 a0001c0004t0008g0089 a0001c0006t0002g0041 a0001c0007t0004g0075 a0001c0007t0019g0043 a0001c0010t0005g0064 a0001c0013t0017g0028 a0001c0014t0001g0062 a0001c0016t0003g0080 a0002c0003t0001g0025 a0002c0003t0001g0031 a0002c0003t0001g0054 a0002c0003t0001g0061 a0002c0003t0009g0017 a0002c0003t0026g0093 a0003c0005t0001g0019 a0003c0005t0001g0069 a0003c0005t0023g0088 a0004c0017t0001g0016 a0005c0011t0001g0055 a0006c0015t0024g0087 a0007c0012t0003g0045 a0008c0009t0002g0079 a0009c0008t0004g0047	82	94	0.8723	-331	c.969 others(19): Show c.969-44868_969-44538del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8						chr12	TogoVar
TMEM239_chr20_2811364_2823062	2822731	CCCGTCTC others(324): Show CCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTC TCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGT CTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCT CTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCC TCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCC GTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02027.hp2 HG02080.hp1 others(8): Show HG00544.hp2 HG02027.hp2 HG02080.hp1 HG03492.hp2 NA18976.hp2 NA18994.hp1 NA19000.hp2 NA19056.hp2 NA19072.hp1 NA19084.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0003g0003	11	400	0.0275	-331	c.57 others(11): Show c.5719_*6049del		TMEM239	ENSG00000198326.10	transcript	ENST00000380585.2	protein_coding					4670		chr20	TogoVar
UBE2J2_chr1_1248912_1278854	1248982	TGGGCCTC others(324): Show TGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGG CTGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACAC GGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCC CTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTG GGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCT GGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGG GCAGCCCTGGGAGGCTGGACCGAGGGAGGCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0111 a0001c0001t0006g0111	1	324	0.0031	-331	c.58 others(11): Show c.5890_*6220del		UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding					4929		chr1	TogoVar
AGO2_chr8_140515156_140640633	140622888	GCACATGG others(323): Show GCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTG GGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGG TCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAAT GCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTG GGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGG TCTCCTCTTGGGGGAATAATCCACATGGGGTCTCCTCTTGGGGGAATAAT GCACATGGGGTCTCCTCTTGGGGTAATAATC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG02572.hp1 others(7): Show HG02145.hp1 HG02486.hp2 HG02572.hp1 HG02809.hp1 HG02970.hp1 HG02976.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0014 a0001c0001t0072 a0001c0001t0136 others(5): Show a0001c0001t0014 a0001c0001t0072 a0001c0001t0136 a0001c0003t0012 a0001c0003t0022 a0001c0005t0007 a0001c0005t0058 a0001c0007t0035	a0001c0001t0014g0194 a0001c0001t0072g0305 a0001c0001t0136g0193 others(7): Show a0001c0001t0014g0194 a0001c0001t0072g0305 a0001c0001t0136g0193 a0001c0003t0012g0186 a0001c0003t0022g0195 a0001c0003t0022g0196 a0001c0003t0022g0197 a0001c0005t0007g0191 a0001c0005t0058g0192 a0001c0007t0035g0075	10	338	0.0296	-330	c.22+ others(17): Show c.22+12267_22+12596del		AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18						chr8	TogoVar
AGO2_chr8_140515156_140640633	140622954	GGGGTCTC others(323): Show GGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAA TAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCT CTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACAT GGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAA TAATCCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCT CTTGGGGTAATAATCCACATGGGGTCTCCTCTTGGGGGAATAATGCACAT GGGGTCTCCTCTTGGGGGAATAATGCACATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG01255.hp2 others(18): Show HG00408.hp2 HG00621.hp2 HG01255.hp2 HG01975.hp1 HG02056.hp1 HG02132.hp2 HG02165.hp1 HG02258.hp1 HG02572.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp2 HG03831.hp2 NA18964.hp2 NA19007.hp2 NA19070.hp1 NA19079.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0001t0065 a0001c0002t0002 a0001c0002t0004 a0001c0002t0016 a0001c0003t0018 a0001c0003t0032 a0001c0003t0057 a0001c0004t0106 a0001c0005t0024	a0001c0001t0001g0062 a0001c0001t0001g0071 a0001c0001t0003g0270 others(18): Show a0001c0001t0001g0062 a0001c0001t0001g0071 a0001c0001t0003g0270 a0001c0001t0009g0116 a0001c0001t0013g0174 a0001c0001t0013g0175 a0001c0001t0013g0176 a0001c0001t0013g0177 a0001c0001t0065g0198 a0001c0002t0002g0244 a0001c0002t0002g0256 a0001c0002t0002g0272 a0001c0002t0004g0210 a0001c0002t0004g0264 a0001c0002t0016g0204 a0001c0002t0016g0205 a0001c0003t0018g0268 a0001c0003t0032g0072 a0001c0003t0057g0238 a0001c0004t0106g0271 a0001c0005t0024g0316	21	338	0.0621	-330	c.22+ others(17): Show c.22+12201_22+12530del		AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18						chr8	TogoVar
AMFR_chr16_56356452_56430545	56397703	AATCATTT others(323): Show AATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCAT TTATAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAA TATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATATA AATGTATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTA TCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCATTT ATAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATA TATAAATGTATCATTTATAATATATAAATGT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0170 a0001c0001t0004g0170	1	356	0.0028	-330	c.108 others(19): Show c.1085+3700_1085+4029del		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13						chr16	TogoVar
ANK2_chr4_113044653_113388736	113064718	TTGTTAGA others(323): Show TTGTTAGAAAGTTCTGTAGAACTTCTAACAAAAATGTTAGAAAGTTCTGT AGAACTTCTAACAAAAATGTTAGAAAGTTCTGTAGAACTTCTAACAAAAA TGTTAGAAAGTTCTGTAGAACTTCTAACAAAAATGTTAGAAAGTTCTGTA GAACTTCTAACAAAAATGTTAGAAAGTTCTGTAGAACTTCTAACAAAAAT GTTAGAAAGTTCTGTAGAACTTCTAACAAAAATGTTAGAAAGTTCTGTAG AACTTCTAACAAAAATGTTAGAAAGTTCTGTAGAACTTCTAACAAAAATG TTAGAAAGTTCTGTAGAACTTCTAACAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03139.hp2 NA18960.hp2 others(2): Show HG02055.hp2 HG03139.hp2 NA18960.hp2 NA19074.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0002c0003t0001	a0001c0001t0001g0081 a0001c0004t0001g0003 a0002c0002t0001g0002 others(2): Show a0001c0001t0001g0081 a0001c0004t0001g0003 a0002c0002t0001g0002 a0002c0002t0001g0079 a0002c0003t0001g0080	5	178	0.0281	-330	c.84+ others(17): Show c.84+15112_84+15441del		ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45					INFO_REALIGN_3_PRIME	chr4	TogoVar
ANP32B_chr9_97978341_98020943	97998776	AGAAAGTG others(323): Show AGAAAGTGGTGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00544.hp2 others(194): Show HG00280.hp1 HG00408.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 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.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18960.hp1 NA18961.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18980.hp2 NA18981.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19080.hp1 NA19084.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0003c0002 others(1): Show a0001c0001 a0001c0003 a0003c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0003c0002t0002 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(117): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0152 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0003t0001g0189 a0003c0002t0002g0061 a0004c0005t0001g0069	197	310	0.6355	-330	c.327 others(15): Show c.327+116_327+445del		ANP32B	ENSG00000136938.9	transcript	ENST00000339399.5	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr9	TogoVar
ASAP1_chr8_130047104_130448674	130049402	GGGGAACA others(323): Show GGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATAC ATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGC AGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGAGA ACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGGGAACACATGGA GGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAG GAGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACA TGGGGGCAGAGGGGAACACATGGAGGGCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0282 a0002c0002t0003g0282	1	308	0.0033	-330	c.49 others(11): Show c.4999_*5328del		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2701		chr8	TogoVar
ASIC2_chr17_33008087_33298295	33126838	AGCAACCC others(323): Show AGCAACCCTACCATTACTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCTGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCTCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03669.hp1 HG03492.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0001 a0001c0001t0003 a0001c0004t0001	a0001c0001t0003g0030 a0001c0004t0001g0153 a0001c0001t0003g0030 a0001c0004t0001g0153	2	240	0.0083	-330	c.709 others(19): Show c.709-15101_709-14772del		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ASMT_chrX_1610059_1648081	1640094	ACATGAGG others(323): Show ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCC ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG TGTCCTGTGAGATCCATCCCTCCTGATGGTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	223	0.0045	-330	c.911 others(17): Show c.911-2628_911-2299del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640536	ATGATGGG others(323): Show ATGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGG CACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGAC ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC CATGAGGATGTGGACACAGCCTCTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0001 a0013c0017t0001	a0013c0017t0001g0111 a0013c0017t0001g0111	1	223	0.0045	-330	c.911 others(17): Show c.911-2147_911-1818del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640917	ACATGAGG others(323): Show ACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCC ATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCC ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG TGTCCTGTGAGATCCATCCCTCCTGATGGTT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0148 a0004c0004t0004g0148	1	223	0.0045	-330	c.911 others(17): Show c.911-1799_911-1470del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1641043	GTGTCCCA others(323): Show GTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT GAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG TCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATTAGGATGTG GACACAGCCTCTGTGTGTGTGATAGGGACCA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01496.hp1 HG01256.hp1 HG01496.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0201 a0002c0002t0001g0044 a0001c0001t0002g0201 a0002c0002t0001g0044	2	223	0.0090	-330	c.911 others(17): Show c.911-1735_911-1406del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1641107	GTGTGTGA others(323): Show GTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATC CTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGAC AGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGAT GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG TGAGGTCCACCCATCCTGATGATCCATTAGGATGTGGACACAGCCTCTGT GTGTGTGATAGGGACCATGTCCCAGTGTCCTGTGAGGTCCACCTATCCTG ATGGTCCATGAGGATGTGGACACAGCCGCTC	G G	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19081.hp2 NA18950.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0084 a0001c0001t0001g0086	2	223	0.0090	-330	c.911 others(17): Show c.911-1689_911-1360del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASNS_chr7_97846677_97877408	97867020	AAAAAGGA others(323): Show AAAAAGGAGAAGGGTCCTTTGGGTAACGGATGTATTACTTCCTACTCTCC TAAAACCAAACTCCAATGCTGCACCTTAAATAAAAGCCCTCAAATCTTGC CTCCTGACGTCATGCTGTCATTTGACTTGGCTGCAGGCCCTGATACTCCC CTGCAGGGAGAGGGCCTGCTCTTTGCCCCAGCCTTTACCCCATTCCTCCT TTCTTTCATTCAGTCTCCTTCTACTCCCAGTACACCTCTGGCTGTATTTT ATTGTAGTGGTAAACTTTATTTTTACCAAAAAGGAGGTGTGGGGGGGATT TCTGAATACTTTATATAAGCCTAAAGTATAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(41): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00558.hp1 HG00609.hp1 HG00733.hp1 HG01099.hp2 HG01123.hp1 HG01981.hp1 HG02074.hp2 HG02148.hp1 HG03239.hp1 HG03654.hp1 NA18942.hp1 NA18948.hp2 NA18950.hp2 NA18953.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18973.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp2 NA18986.hp2 NA18995.hp1 NA19002.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19067.hp2 NA19072.hp1 NA19075.hp2 NA19084.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0007t0001 a0001c0001t0001 a0001c0001t0004 a0001c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0027 others(15): Show a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0050 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0004g0111 a0001c0007t0001g0110	44	436	0.1009	-330	c.249 others(17): Show c.249+1558_249+1887del		ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding	3/12						chr7	TogoVar
B4GALNT2_chr17_49127769_49181840	49151077	CAAAAAGC others(323): Show CAAAAAGCTAATCTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(376): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.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 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.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.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.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 HG02965.hp1 HG02965.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 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013	a0001c0001 a0001c0004 a0001c0005 others(15): Show a0001c0001 a0001c0004 a0001c0005 a0001c0011 a0002c0002 a0002c0006 a0002c0007 a0003c0003 a0004c0012 a0005c0008 a0006c0009 a0007c0010 a0008c0013 a0009c0016 a0010c0014 a0011c0015 a0012c0017 a0013c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(64): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0051 a0001c0001t0052 a0001c0001t0056 a0001c0001t0057 a0001c0004t0008 a0001c0004t0020 a0001c0004t0049 a0001c0004t0050 a0001c0005t0008 a0001c0011t0042 a0002c0002t0004 a0002c0002t0005 a0002c0002t0011 a0002c0002t0054 a0002c0006t0021 a0002c0006t0055 a0002c0007t0004 a0003c0003t0009 a0004c0012t0007 a0005c0008t0014 a0006c0009t0002 a0007c0010t0003 a0008c0013t0001 a0009c0016t0003 a0010c0014t0002 a0011c0015t0053 a0012c0017t0035 a0013c0018t0029	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(349): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0271 a0001c0001t0001g0289 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0001t0001g0330 a0001c0001t0001g0341 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0080 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0121 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0149 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0242 a0001c0001t0002g0247 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0300 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0324 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0333 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0340 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0019 a0001c0001t0003g0059 a0001c0001t0003g0079 a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0001t0003g0111 a0001c0001t0003g0123 a0001c0001t0003g0168 a0001c0001t0003g0174 a0001c0001t0003g0216 a0001c0001t0003g0232 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0329 a0001c0001t0006g0099 a0001c0001t0006g0138 a0001c0001t0006g0146 a0001c0001t0006g0152 a0001c0001t0006g0180 a0001c0001t0006g0198 a0001c0001t0006g0201 a0001c0001t0006g0332 a0001c0001t0007g0137 a0001c0001t0007g0295 a0001c0001t0007g0319 a0001c0001t0007g0327 a0001c0001t0008g0255 a0001c0001t0010g0012 a0001c0001t0010g0231 a0001c0001t0010g0244 a0001c0001t0010g0291 a0001c0001t0012g0133 a0001c0001t0012g0153 a0001c0001t0012g0157 a0001c0001t0013g0156 a0001c0001t0013g0352 a0001c0001t0015g0147 a0001c0001t0015g0323 a0001c0001t0016g0084 a0001c0001t0016g0252 a0001c0001t0017g0106 a0001c0001t0017g0107 a0001c0001t0018g0283 a0001c0001t0018g0286 a0001c0001t0019g0014 a0001c0001t0020g0274 a0001c0001t0022g0018 a0001c0001t0023g0277 a0001c0001t0024g0017 a0001c0001t0025g0196 a0001c0001t0026g0122 a0001c0001t0027g0061 a0001c0001t0028g0141 a0001c0001t0030g0233 a0001c0001t0031g0225 a0001c0001t0032g0130 a0001c0001t0033g0312 a0001c0001t0034g0351 a0001c0001t0036g0276 a0001c0001t0037g0226 a0001c0001t0038g0267 a0001c0001t0039g0077 a0001c0001t0040g0047 a0001c0001t0041g0188 a0001c0001t0043g0331 a0001c0001t0044g0161 a0001c0001t0045g0108 a0001c0001t0046g0090 a0001c0001t0047g0085 a0001c0001t0048g0176 a0001c0001t0051g0350 a0001c0001t0052g0197 a0001c0001t0056g0290 a0001c0001t0057g0162 a0001c0004t0008g0264 a0001c0004t0008g0265 a0001c0004t0020g0254 a0001c0004t0049g0348 a0001c0004t0050g0117 a0001c0005t0008g0010 a0001c0005t0008g0081 a0001c0011t0042g0132 a0002c0002t0004g0037 a0002c0002t0004g0038 a0002c0002t0004g0101 a0002c0002t0004g0129 a0002c0002t0004g0164 a0002c0002t0004g0179 a0002c0002t0004g0185 a0002c0002t0004g0195 a0002c0002t0004g0205 a0002c0002t0004g0217 a0002c0002t0004g0220 a0002c0002t0004g0221 a0002c0002t0004g0248 a0002c0002t0004g0301 a0002c0002t0004g0307 a0002c0002t0004g0308 a0002c0002t0004g0309 a0002c0002t0004g0314 a0002c0002t0004g0337 a0002c0002t0005g0005 a0002c0002t0005g0116 a0002c0002t0005g0159 a0002c0002t0005g0212 a0002c0002t0005g0249 a0002c0002t0005g0266 a0002c0002t0005g0353 a0002c0002t0011g0154 a0002c0002t0011g0155 a0002c0002t0011g0275 a0002c0002t0054g0102 a0002c0006t0021g0035 a0002c0006t0021g0100 a0002c0006t0055g0273 a0002c0007t0004g0016 a0003c0003t0009g0211 a0003c0003t0009g0240 a0003c0003t0009g0241 a0003c0003t0009g0261 a0003c0003t0009g0349 a0004c0012t0007g0338 a0004c0012t0007g0339 a0005c0008t0014g0222 a0005c0008t0014g0223 a0006c0009t0002g0134 a0006c0009t0002g0235 a0007c0010t0003g0083 a0007c0010t0003g0230 a0008c0013t0001g0298 a0009c0016t0003g0345 a0010c0014t0002g0334 a0011c0015t0053g0238 a0012c0017t0035g0263 a0013c0018t0029g0204	379	380	0.9974	-330	c.354 others(17): Show c.354-1708_354-1379del		B4GALNT2	ENSG00000167080.9	transcript	ENST00000393354.7	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
BOP1_chr8_144257045_144296438	144280909	CTTTCATA others(323): Show CTTTCATACCAGGTCTTAGGCCTTCTCTCAGTTTAATACCAGGTCTTTGG CCTTCTCTCACTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCATACC AGGTCTTCGGCCTTCTCTCACTTTAATACCAGGTCTTAGGCCTTCTCTCA CTTTCATACCAGGTCTTCGGCCTTCTCTCACTTTAATACCAGGTCTTCGG CCTTCTCTCAGTTTAATACCAGGTCTTAGGCCTTCTCTCAGTTTAATACC AGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCA GTTTAATACCAGGTCTTCGGCCTTCCCTCAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03225.hp1 HG01884.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0032 a0001c0002t0001g0033	2	398	0.0050	-330	c.310 others(17): Show c.310-4935_310-4606del		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BOP1_chr8_144257045_144296438	144281059	CTTTCATA others(323): Show CTTTCATACCAGGTCTTCGGCCTTCTCTCACTTTAATACCAGGTCTTCGG CCTTCTCTCAGTTTAATACCAGGTCTTAGGCCTTCTCTCAGTTTAATACC AGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCA GTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGG CCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCATACC AGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCA GTTTAATACCAGGTCTTCGGCCTTCCCTCAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01943.hp1 HG01981.hp2 others(24): Show HG01884.hp1 HG01943.hp1 HG01981.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1 NA18522.hp1 NA19007.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0006 a0015 a0001 a0006 a0015	a0001c0001 a0006c0013 a0015c0021 a0001c0001 a0006c0013 a0015c0021	a0001c0001t0001 a0006c0013t0001 a0015c0021t0001 a0001c0001t0001 a0006c0013t0001 a0015c0021t0001	a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0076 others(22): Show a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0076 a0001c0001t0001g0195 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0344 a0001c0001t0001g0350 a0001c0001t0001g0366 a0006c0013t0001g0303 a0006c0013t0001g0304 a0015c0021t0001g0183	27	398	0.0678	-330	c.310 others(17): Show c.310-5085_310-4756del		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BOP1_chr8_144257045_144296438	144281063	CATACCAG others(323): Show CATACCAGGTCTTCGGCCTTCTCTCACTTTAATACCAGGTCTTCGGCCTT CTCTCAGTTTAATACCAGGTCTTAGGCCTTCTCTCAGTTTAATACCAGGT CTTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTT AATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTT CCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGT CTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTT AATACCAGGTCTTCGGCCTTCCCTCAGTTTA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01952.hp2 HG02071.hp2 others(23): Show HG00621.hp1 HG01952.hp2 HG02071.hp2 HG02074.hp1 HG02132.hp2 HG02148.hp1 HG02647.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18953.hp1 NA18955.hp1 NA18966.hp1 NA18966.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18999.hp1 NA19011.hp2 NA19054.hp1 NA19056.hp1 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0053 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0053 a0001c0001t0001g0137 a0001c0001t0001g0196 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0299 a0001c0001t0001g0357 a0001c0001t0001g0370 a0001c0006t0001g0166	26	398	0.0653	-330	c.310 others(17): Show c.310-5089_310-4760del		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BOP1_chr8_144257045_144296438	144281179	CTTTCATA others(323): Show CTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGG CCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACC AGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCA GTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGG CCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCATACC AGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCA CTTTCATACCAGGTCTTTGGCCTTCCCTCAG	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0343 a0001c0001t0001g0343	1	398	0.0025	-330	c.310 others(17): Show c.310-5205_310-4876del		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BOP1_chr8_144257045_144296438	144281243	AATACCAG others(323): Show AATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTT CCCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGT CTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTT AATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTTTGGCCTT CTCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGT CTTTGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTT AATACCAGGTCTTCGGCCTTCCCTCACTTTC	A A	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	398	0.0025	-330	c.310 others(17): Show c.310-5269_310-4940del		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BRD9_chr5_858741_897801	897348	TTCAGTGT others(323): Show TTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAG CCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGG GCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAAC AGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGT CAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCC CAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGC TCTGGCAGGCCAAGCCCAGGGCTTCATTCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 NA18943.hp1 NA19002.hp2 HG02027.hp2 NA18943.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0129 a0001c0001t0002g0003 a0001c0001t0002g0129	3	364	0.0082	-330	c.-50 others(11): Show c.-5021_-4692del		BRD9	ENSG00000028310.18	transcript	ENST00000467963.6	protein_coding					4548		chr5	TogoVar
C1QTNF12_chr1_1237453_1251722	1248881	AACGGGCA others(323): Show AACGGGCAGCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCTCCCACTCC GCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAGCGAGGGAGG CTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAG GCTGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACA CGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGC CCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCT GGGCCTCCCACTCCGCCCTACAGGCCGGGAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00558.hp1 others(32): Show HG00140.hp2 HG00280.hp2 HG00558.hp1 HG00735.hp2 HG01074.hp2 HG01516.hp1 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02132.hp2 HG02135.hp2 HG02523.hp1 HG02965.hp2 HG03225.hp1 NA18747.hp1 NA18940.hp1 NA18951.hp1 NA18955.hp1 NA18956.hp2 NA18966.hp1 NA18972.hp2 NA18983.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19009.hp2 NA19012.hp2 NA19056.hp1 NA19062.hp2 NA19070.hp1 NA19080.hp1 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0020 a0002c0021 a0002c0002 a0002c0020 a0002c0021	a0002c0002t0002 a0002c0002t0008 a0002c0020t0007 others(1): Show a0002c0002t0002 a0002c0002t0008 a0002c0020t0007 a0002c0021t0002	a0002c0002t0002g0003 a0002c0002t0002g0024 a0002c0002t0002g0025 others(14): Show a0002c0002t0002g0003 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0045 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0094 a0002c0002t0002g0100 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0106 a0002c0002t0002g0108 a0002c0002t0002g0113 a0002c0002t0008g0107 a0002c0020t0007g0097 a0002c0021t0002g0098	35	328	0.1067	-330	c.-25 others(11): Show c.-2521_-2192del		C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding					2160		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077001	GGGGAGGC others(323): Show GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTG AGGCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTACGGGGACTCCGTGA GGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAGGCTGAGTCTATGGG GACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTATGGGGACTCTGTGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	326	0.0031	-330	c.55 others(11): Show c.5562_*5891del		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					4821		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078681	CGGGAGGC others(323): Show CGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGCACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGA GGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTG AGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0116 a0001c0001t0006g0116	1	326	0.0031	-330	c.38 others(11): Show c.3882_*4211del		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					3141		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078731	GACTCCGT others(323): Show GACTCCGTGGGGGGAGGCTGAGGCTATGGGCACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGA GGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTG AGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0287 a0001c0001t0006g0287	1	326	0.0031	-330	c.38 others(11): Show c.3832_*4161del		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					3091		chr1	TogoVar
C7orf50_chr7_992006_1143247	1128736	GTCACCCG others(323): Show GTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCGCACCCTGT CACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCA CCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCATCACCCG GGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGG CTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCT GGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAG TGCAGTGGCGCCATCTCGGCTCATCCCACCA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	326	0.0031	-330	c.-1- others(15): Show c.-1-1680_-1-1351del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4						chr7	TogoVar
CFAP46_chr10_132803392_132947570	132914259	GCCCGAGG others(323): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01192.hp1 HG01517.hp1 others(6): Show HG00741.hp1 HG01192.hp1 HG01517.hp1 HG02129.hp2 HG02523.hp2 HG02602.hp1 HG03490.hp1 HG03492.hp2 HG03710.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0018 a0027 a0063	a0001c0001 a0002c0002 a0003c0012 others(3): Show a0001c0001 a0002c0002 a0003c0012 a0018c0024 a0027c0103 a0063c0079	a0001c0001t0002 a0002c0002t0001 a0003c0012t0002 others(3): Show a0001c0001t0002 a0002c0002t0001 a0003c0012t0002 a0018c0024t0001 a0027c0103t0002 a0063c0079t0002	a0001c0001t0002g0080 a0002c0002t0001g0175 a0002c0002t0001g0177 others(5): Show a0001c0001t0002g0080 a0002c0002t0001g0175 a0002c0002t0001g0177 a0003c0012t0002g0001 a0003c0012t0002g0087 a0018c0024t0001g0211 a0027c0103t0002g0078 a0063c0079t0002g0089	9	246	0.0366	-330	c.212 others(19): Show c.2121-1331_2121-1002del		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57						chr10	TogoVar
CTDP1_chr18_79674803_79759503	79739776	AGGACGGG others(323): Show AGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCAT ACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTG GGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCC GGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCAT ACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTG GGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCC GGGACGGGTGGGACTCTCATACCCACGGCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(172): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03017.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0012 a0014 a0016 a0017	a0001c0001 a0001c0003 a0001c0029 others(11): Show a0001c0001 a0001c0003 a0001c0029 a0001c0035 a0002c0002 a0003c0005 a0003c0009 a0003c0012 a0003c0023 a0004c0004 a0012c0033 a0014c0034 a0016c0039 a0017c0040	a0001c0001t0002 a0001c0001t0008 a0001c0001t0017 others(14): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0017 a0001c0003t0001 a0001c0003t0010 a0001c0029t0001 a0001c0035t0002 a0002c0002t0001 a0003c0005t0002 a0003c0009t0002 a0003c0012t0002 a0003c0023t0003 a0004c0004t0001 a0012c0033t0002 a0014c0034t0002 a0016c0039t0001 a0017c0040t0001	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0016 others(170): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0206 a0001c0001t0002g0339 a0001c0001t0008g0097 a0001c0001t0008g0098 a0001c0001t0008g0101 a0001c0001t0017g0207 a0001c0003t0001g0003 a0001c0003t0001g0028 a0001c0003t0001g0030 a0001c0003t0001g0035 a0001c0003t0001g0039 a0001c0003t0001g0040 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0045 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0340 a0001c0003t0010g0044 a0001c0029t0001g0029 a0001c0035t0002g0002 a0002c0002t0001g0090 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0253 a0002c0002t0001g0255 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0284 a0002c0002t0001g0287 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0302 a0002c0002t0001g0304 a0003c0005t0002g0005 a0003c0005t0002g0006 a0003c0005t0002g0007 a0003c0005t0002g0008 a0003c0005t0002g0099 a0003c0005t0002g0102 a0003c0005t0002g0103 a0003c0005t0002g0104 a0003c0005t0002g0110 a0003c0005t0002g0111 a0003c0005t0002g0112 a0003c0005t0002g0113 a0003c0005t0002g0114 a0003c0005t0002g0118 a0003c0005t0002g0119 a0003c0005t0002g0120 a0003c0005t0002g0121 a0003c0005t0002g0123 a0003c0005t0002g0125 a0003c0005t0002g0126 a0003c0005t0002g0127 a0003c0005t0002g0128 a0003c0005t0002g0129 a0003c0005t0002g0130 a0003c0005t0002g0133 a0003c0005t0002g0134 a0003c0009t0002g0108 a0003c0009t0002g0109 a0003c0009t0002g0115 a0003c0009t0002g0116 a0003c0009t0002g0117 a0003c0009t0002g0124 a0003c0012t0002g0105 a0003c0012t0002g0106 a0003c0012t0002g0107 a0003c0023t0003g0361 a0004c0004t0001g0320 a0004c0004t0001g0322 a0004c0004t0001g0323 a0012c0033t0002g0146 a0014c0034t0002g0122 a0016c0039t0001g0245 a0017c0040t0001g0256	175	378	0.4630	-330	c.274 others(19): Show c.2747+3361_2747+3690del		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
DBNDD1_chr16_89999871_90024456	90003450	TTCCCTCC others(323): Show TTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTC TATGACTCCCTCCCCCGGCCCGGGCTACCTTTACATGCACGTGCGGTGGG ACTTCTGTGATTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACGTGGG GTGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCTACCTTTACGTGCAC GTGGGGCGGGACTTCTATGACTCCCTCCCCCGGCCCGGGCCACCTTTACG TGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCT TTACGTGCACGTGGGGCGGGACTTCTGTGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG03516.hp2 HG02965.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0155 a0001c0001t0002g0229 a0001c0001t0001g0155 a0001c0001t0002g0229	2	412	0.0049	-330	c.25 others(11): Show c.2555_*2884del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					1420		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003460	CGGCCCGG others(323): Show CGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTATGACTCCC TCCCCCGGCCCGGGCTACCTTTACATGCACGTGCGGTGGGACTTCTGTGA TTCCCTCCCCCGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTC TGTGACTCCCTCCCCTGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGG ACTTCTATGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGG GCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCAC GTGGGGCGGGACTTCTGTGACTCCCTCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG02683.hp1 HG02886.hp2 others(5): Show HG00738.hp2 HG02683.hp1 HG02886.hp2 HG02965.hp1 HG03704.hp2 NA19002.hp2 NA19064.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0001 a0001c0001t0003 a0001c0001t0015	a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0015 others(5): Show a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0206 a0001c0001t0001g0225 a0001c0001t0003g0145 a0001c0001t0003g0188 a0001c0001t0015g0099	8	412	0.0194	-330	c.25 others(11): Show c.2545_*2874del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					1410		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003470	TACCTTTA others(323): Show TACCTTTATATGCACGTGGGGTGGGACTTCTATGACTCCCTCCCCCGGCC CGGGCTACCTTTACATGCACGTGCGGTGGGACTTCTGTGATTCCCTCCCC CGGCCCGGGCTACCTTTATATGCACGTGGGGTGGGACTTCTGTGACTCCC TCCCCTGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTATGA CTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTC TGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGG ACTTCTGTGACTCCCTCCCCTGGCCCGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 NA19043.hp2 NA19240.hp2 HG02723.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0150 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0150	3	412	0.0073	-330	c.25 others(11): Show c.2535_*2864del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					1400		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90003479	ATGCACGT others(323): Show ATGCACGTGGGGTGGGACTTCTATGACTCCCTCCCCCGGCCCGGGCTACC TTTACATGCACGTGCGGTGGGACTTCTGTGATTCCCTCCCCCGGCCCGGG CTACCTTTATATGCACGTGGGGTGGGACTTCTGTGACTCCCTCCCCTGGC CCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTATGACTCCCTCCC CCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCC CTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTG ACTCCCTCCCCTGGCCCGGGCCACCTTTACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	2	412	0.0049	-330	c.25 others(11): Show c.2526_*2855del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					1391		chr16	TogoVar
DMRT1_chr9_836697_974090	900821	ACTACAGG others(323): Show ACTACAGGTGTGTGCCACCATGCCACACCTGGCTAATTAAAAAACTTTTT TTGTAGAGATGGGGGTCTCAGTGTGGTGCCGAGGCTGGTCTTAAACTTTT GGCTCAAGTGAGCCTCCTGCCTCAGCCTCTAGAAGCGCTGGGATTACAGG CTTGAGCTGCTGTGCCTAGCTCTACTTCAGTTTTTTTTTTTTAATTATTA TTATTTTTTAATTGAGAAGGATCTTGCTCTCTCACCCAGGCCAGAGTGCA GCAGCATGATCTCAGTTCACTGTAGCCTCCACCTCCTGGACTTAAGCGAT CCTCCTACCTCAGCCCCCTCAGTAGCTGAGG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	306	0.0033	-330	c.822 others(17): Show c.822+6634_822+6963del		DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAJB6_chr7_157332004_157422439	157369644	CACATTAT others(323): Show CACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCT TTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACA GGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACATTATTATT AAACGAGCCCCTTCTTAACATCATTATTAAACAGGCCTTTCATAACGTTA TTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTCA ACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACGGGACCC TTCTTAAGATTATTAAACGGGCCCTTTCTTA	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	372	0.0027	-330	c.346 others(17): Show c.346+2204_346+2533del		DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
DOC2B_chr17_137789_186650	170965	CTGCAGAG others(323): Show CTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGC ACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGG CTGCAGAGGGCAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGCACCA GGGGCCGGGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGC AGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCA GGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCT GCAGAGGGCGGCACCAGGGGCCGGGCCAGGT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0203 a0001c0002t0031g0203	1	339	0.0030	-330	c.453 others(17): Show c.453+1242_453+1571del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
DOC2B_chr17_137789_186650	171170	GGAGAGCA others(323): Show GGAGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGC CGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGGCCAGGCTGCAGA GGGCGGCACCAGGGGCCGGGCCAGGTTGCAGAGGGGAGCACCAGGGGCCG GGCCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGC AGCACCAGGGGCCGGGCCAGGCTGCAGAGGGGAGAGCACCAGGGGCCGGG CCAGGCTGCAGAGGGGAGCACCAGGGGCCGGGCCAGGCTGCAGAGGGCAG CACCAGGGGCCGGGCCAGGCTGCAGAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0269 a0001c0002t0016g0269	1	339	0.0030	-330	c.453 others(17): Show c.453+1037_453+1366del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
DPH7_chr9_137549444_137583925	137567636	ACTGTCTG others(323): Show ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCC CCGGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	340	0.0029	-330	c.641 others(17): Show c.641-2812_641-2483del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
ERBIN_chr5_65921575_66087546	66050213	ACTAAATC others(323): Show ACTAAATCGAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG CCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(189): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(9): Show a0001 a0003 a0004 a0005 a0007 a0008 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0007 a0001c0020 others(16): Show a0001c0001 a0001c0007 a0001c0020 a0001c0021 a0001c0022 a0003c0004 a0003c0025 a0004c0005 a0004c0014 a0004c0017 a0005c0006 a0007c0012 a0008c0011 a0011c0019 a0012c0016 a0013c0018 a0014c0023 a0015c0024 a0016c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(33): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0024 a0001c0001t0028 a0001c0007t0010 a0001c0020t0001 a0001c0021t0001 a0001c0022t0009 a0003c0004t0001 a0003c0004t0017 a0003c0004t0021 a0003c0004t0023 a0003c0004t0026 a0003c0004t0027 a0003c0025t0001 a0004c0005t0004 a0004c0005t0025 a0004c0014t0004 a0004c0017t0004 a0005c0006t0002 a0005c0006t0007 a0005c0006t0015 a0005c0006t0016 a0007c0012t0011 a0008c0011t0011 a0011c0019t0001 a0012c0016t0007 a0013c0018t0001 a0014c0023t0001 a0015c0024t0022 a0016c0013t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(189): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0159 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0003g0113 a0001c0001t0006g0147 a0001c0001t0006g0148 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0154 a0001c0001t0006g0155 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0009g0036 a0001c0001t0009g0037 a0001c0001t0009g0038 a0001c0001t0009g0039 a0001c0001t0009g0040 a0001c0001t0013g0100 a0001c0001t0013g0124 a0001c0001t0013g0125 a0001c0001t0014g0070 a0001c0001t0014g0071 a0001c0001t0020g0142 a0001c0001t0024g0158 a0001c0001t0028g0092 a0001c0007t0010g0161 a0001c0007t0010g0162 a0001c0007t0010g0163 a0001c0007t0010g0164 a0001c0007t0010g0165 a0001c0007t0010g0275 a0001c0020t0001g0117 a0001c0021t0001g0101 a0001c0022t0009g0035 a0003c0004t0001g0001 a0003c0004t0001g0089 a0003c0004t0001g0094 a0003c0004t0001g0105 a0003c0004t0001g0107 a0003c0004t0001g0108 a0003c0004t0001g0114 a0003c0004t0001g0115 a0003c0004t0001g0122 a0003c0004t0001g0127 a0003c0004t0001g0128 a0003c0004t0001g0130 a0003c0004t0001g0131 a0003c0004t0001g0132 a0003c0004t0001g0134 a0003c0004t0001g0136 a0003c0004t0001g0137 a0003c0004t0001g0140 a0003c0004t0001g0141 a0003c0004t0001g0269 a0003c0004t0001g0270 a0003c0004t0001g0271 a0003c0004t0001g0302 a0003c0004t0001g0305 a0003c0004t0001g0306 a0003c0004t0017g0121 a0003c0004t0021g0303 a0003c0004t0023g0304 a0003c0004t0026g0301 a0003c0004t0027g0139 a0003c0025t0001g0143 a0004c0005t0004g0007 a0004c0005t0004g0008 a0004c0005t0004g0009 a0004c0005t0004g0010 a0004c0005t0004g0013 a0004c0005t0004g0014 a0004c0005t0004g0015 a0004c0005t0004g0016 a0004c0005t0004g0017 a0004c0005t0004g0019 a0004c0005t0004g0020 a0004c0005t0004g0021 a0004c0005t0004g0027 a0004c0005t0025g0012 a0004c0014t0004g0018 a0004c0017t0004g0011 a0005c0006t0002g0229 a0005c0006t0002g0263 a0005c0006t0007g0026 a0005c0006t0007g0221 a0005c0006t0007g0222 a0005c0006t0007g0223 a0005c0006t0007g0224 a0005c0006t0007g0226 a0005c0006t0007g0227 a0005c0006t0007g0230 a0005c0006t0015g0225 a0005c0006t0016g0299 a0007c0012t0011g0022 a0007c0012t0011g0023 a0008c0011t0011g0024 a0008c0011t0011g0025 a0011c0019t0001g0088 a0012c0016t0007g0228 a0013c0018t0001g0049 a0014c0023t0001g0087 a0015c0024t0022g0146 a0016c0013t0001g0062	192	306	0.6275	-330	c.190 others(17): Show c.1904-554_1904-225del		ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	19/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
ESCO2_chr8_27769554_27810316	27804983	CAAAAGAA others(323): Show CAAAAGAAGAGGCTTCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	splice_region_variant splice_region_variant	LOW	HG00140.hp1 HG00408.hp1 HG00438.hp2 others(124): Show HG00140.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG00738.hp1 HG01175.hp2 HG01192.hp2 HG01346.hp2 HG01433.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03704.hp2 HG03831.hp1 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp2 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18981.hp2 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0008 a0009 a0010	a0001c0001 a0001c0004 a0002c0002 others(6): Show a0001c0001 a0001c0004 a0002c0002 a0002c0009 a0003c0003 a0007c0012 a0008c0008 a0009c0011 a0010c0010	a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 others(20): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0031 a0001c0001t0035 a0001c0004t0021 a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0002c0002t0017 a0002c0002t0021 a0002c0002t0032 a0002c0009t0001 a0003c0003t0012 a0003c0003t0018 a0003c0003t0033 a0003c0003t0034 a0007c0012t0007 a0008c0008t0017 a0009c0011t0001 a0010c0010t0001	a0001c0001t0001g0027 a0001c0001t0001g0060 a0001c0001t0007g0006 others(81): Show a0001c0001t0001g0027 a0001c0001t0001g0060 a0001c0001t0007g0006 a0001c0001t0007g0008 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0073 a0001c0001t0007g0074 a0001c0001t0007g0075 a0001c0001t0007g0076 a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0007g0163 a0001c0001t0016g0016 a0001c0001t0016g0054 a0001c0001t0016g0055 a0001c0001t0017g0026 a0001c0001t0017g0071 a0001c0001t0017g0072 a0001c0001t0020g0023 a0001c0001t0020g0056 a0001c0001t0020g0057 a0001c0001t0020g0058 a0001c0001t0031g0059 a0001c0001t0035g0023 a0001c0004t0021g0102 a0001c0004t0021g0103 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0009 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0093 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0004g0001 a0002c0002t0004g0003 a0002c0002t0004g0004 a0002c0002t0004g0007 a0002c0002t0004g0009 a0002c0002t0004g0018 a0002c0002t0004g0080 a0002c0002t0004g0086 a0002c0002t0004g0091 a0002c0002t0004g0092 a0002c0002t0004g0100 a0002c0002t0004g0101 a0002c0002t0007g0001 a0002c0002t0007g0081 a0002c0002t0007g0083 a0002c0002t0007g0094 a0002c0002t0017g0079 a0002c0002t0021g0001 a0002c0002t0032g0004 a0002c0009t0001g0029 a0003c0003t0012g0017 a0003c0003t0012g0024 a0003c0003t0012g0062 a0003c0003t0012g0063 a0003c0003t0012g0064 a0003c0003t0012g0065 a0003c0003t0018g0025 a0003c0003t0018g0066 a0003c0003t0018g0067 a0003c0003t0018g0069 a0003c0003t0033g0068 a0003c0003t0034g0061 a0007c0012t0007g0008 a0008c0008t0017g0006 a0009c0011t0001g0001 a0010c0010t0001g0001	127	380	0.3342	-330	c.15 others(11): Show c.1563_*1892del		ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM20A_chr17_68530116_68606367	68552650	GTAAACCT others(323): Show GTAAACCTTTATTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCCTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGTGCCCGGCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(44): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG01074.hp2 HG01106.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG02040.hp1 HG02074.hp2 HG02129.hp2 HG02258.hp2 HG02280.hp1 HG02630.hp2 HG02922.hp1 HG03486.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG04115.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18944.hp1 NA18952.hp2 NA18959.hp1 NA18962.hp2 NA18967.hp2 NA18974.hp2 NA18981.hp1 NA18982.hp1 NA18986.hp2 NA19010.hp1 NA19043.hp2 NA19067.hp2 NA19070.hp2 NA19079.hp2 NA19085.hp1 NA19240.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0002c0003 a0002c0007 a0003c0006 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 a0001c0004t0002 a0001c0004t0013 a0001c0005t0002 a0001c0005t0003 a0002c0003t0001 a0002c0007t0001 a0003c0006t0001 a0004c0011t0002	a0001c0001t0001g0261 a0001c0001t0001g0270 a0001c0001t0002g0125 others(43): Show a0001c0001t0001g0261 a0001c0001t0001g0270 a0001c0001t0002g0125 a0001c0001t0002g0155 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0002g0197 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0235 a0001c0001t0002g0242 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0311 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0344 a0001c0001t0002g0351 a0001c0001t0003g0194 a0001c0001t0003g0206 a0001c0001t0003g0246 a0001c0001t0020g0330 a0001c0004t0002g0016 a0001c0004t0002g0024 a0001c0004t0002g0046 a0001c0004t0002g0047 a0001c0004t0013g0007 a0001c0005t0002g0071 a0001c0005t0002g0072 a0001c0005t0002g0073 a0001c0005t0002g0101 a0001c0005t0002g0106 a0001c0005t0002g0109 a0001c0005t0002g0118 a0001c0005t0003g0092 a0001c0005t0003g0116 a0002c0003t0001g0240 a0002c0003t0001g0244 a0002c0007t0001g0086 a0003c0006t0001g0003 a0004c0011t0002g0058	47	380	0.1237	-330	c.641 others(16): Show c.641-1029_641-700del		FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	3/10						chr17	TogoVar
FMN2_chr1_240086883_240480187	240207635	AATACCTC others(323): Show AATACCTCCTCCGCCCCCTCTACCCGGAGCGGCAATACCCCCTCCGCCCC CTCTTCCCGGGGCAGGCATACCCCTTCCTCCCCCTCTTCCCGGAGCAGGA ATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCCTCCCCC ACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCACTTCCCGGAGCGGGCA TACCCCCTCCTCCCCCTCTTCCCGGAGCGGGCATACCTCCTCCACCCCCT CTACCCGGAGCGGGCATACCCCCTCCGCCCCCACTTCCCGGAGCGGGCAT ACCCCCTCCGCCCCCACTTCCCGGAGCGGGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19077.hp1 NA19077.hp1	a0083 a0083	a0083c0041 a0083c0041	a0083c0041t0001 a0083c0041t0001	a0083c0041t0001g0033 a0083c0041t0001g0033	1	174	0.0058	-330	c.282 others(9): Show c.2829_3158del	p.Pro others(14): Show p.Pro944_Pro1053del	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	5/18	3056/6429	2829/5169	943/1722		INFO_REALIGN_3_PRIME	chr1	TogoVar
GABRG1_chr4_46030769_46129054	46101143	ATAATACT others(323): Show ATAATACTCTGAGAATTTATTAAAAATTAATATACCTACCTTAAAAATGA GAAAATAAGAGATTATAGAATTCCAGGACACACAGCTATTAAACAATAGA CCCAGAATTTAAAATAATGTTGATTTAATTTGAAGACATATTTTCTGCTT CCTTAAAGTTTTCCTGGCACAACATATACCTTTATTGAATAATCTAGGGT GGTTCGGTTTTGAATTTCCTAATTCACAAGACCGCAACAAAACCTACGGT ACGTAATTAGCAGACACATTTGGATTGTGTGTGGCTAGGGTAGTCTCAGC CCTTGACTCCAGAGAAGGTAGAATCATAAAC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	308	0.0033	-330	c.105 others(17): Show c.105-4124_105-3795del		GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	1/8						chr4	TogoVar
GGCT_chr7_30491621_30509829	30495984	TTTTTTTT others(323): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCTATCCTAAGCTTATTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02970.hp1 NA18995.hp1 others(2): Show HG02738.hp2 HG02970.hp1 NA18995.hp1 NA19085.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0003 a0001c0001t0002g0194 a0001c0001t0004g0049 others(2): Show a0001c0001t0002g0003 a0001c0001t0002g0194 a0001c0001t0004g0049 a0001c0001t0004g0070 a0001c0001t0004g0084	5	444	0.0113	-330	c.77 others(10): Show c.778_*1107del		GGCT	ENSG00000006625.18	transcript	ENST00000275428.9	protein_coding					636		chr7	TogoVar
GIPC3_chr19_3580478_3598541	3581064	TGGGATTA others(323): Show TGGGATTACAGGCGTGAGCCATTGTGCCCGCCCACCTCCATCCCACACTG CTTCTTCTTCTTCTTTTTCTTTTTTTTTTCAGACAGAGTTTCACTCATGT CACCCAGGCCGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCAC CATCCAGGTTCAAGCGATTCTCCTGCCCCAGCCTCCTGAGTAGCTGGGAT TACAGGCGCCCACCACCATGTCTGGCTAATTTTTTATATTTTAGTAGAGA TGTGATTTCACCATGTCAGCCAGGATGGTCTCGAACTCCTGACCTCAGGT GATCCACCTGCCCCAGCCTCCCAAAGGGCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	430	0.0023	-330	c.-45 others(11): Show c.-4533_-4204del		GIPC3	ENSG00000179855.9	transcript	ENST00000644452.3	protein_coding					4413		chr19	TogoVar
GRIA4_chr11_105605073_105987090	105852766	TTTTTTCC others(323): Show TTTTTTCCTGCTAGGAACAGAAATTGTCTCCATAATTGTATGCAAATCCT TTCACCAGAATCATCACAAGAAAATTATGTACTGCTACTCCTGCTCTAAA GAAAAGACGAAAGTAACAGTTTAAAATATCACTTTCAAATCAACCAAAAT GAATGGTTTTGGCTTTGTGTATAAAAGCCAGATCCAAATTAATATTATTT ACAGTACACAGCTTGGCATGTGAATATAACAAGCTGATACTTAATATGTT GTGTAACACTTCTTTGAGTTTCGTTGCTAGTGATTGCTTTTATGATTAAT TAATGAGATCTGTTGGACTCAAACTTCAACA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp1 HG01346.hp2 others(17): Show HG00609.hp1 HG00741.hp1 HG01346.hp2 HG01358.hp2 HG01975.hp1 HG01975.hp2 HG02165.hp2 HG02559.hp1 HG03225.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18961.hp2 NA18962.hp1 NA19000.hp2 NA19007.hp1 NA19030.hp1 NA19063.hp2 NA19082.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0034 a0001c0001t0036 a0001c0002t0012	a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0001g0071 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0001g0071 a0001c0001t0001g0101 a0001c0001t0002g0069 a0001c0001t0003g0184 a0001c0001t0004g0040 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0009g0141 a0001c0001t0010g0041 a0001c0001t0010g0134 a0001c0001t0010g0139 a0001c0001t0011g0130 a0001c0001t0011g0136 a0001c0001t0013g0129 a0001c0001t0034g0140 a0001c0001t0036g0135 a0001c0002t0012g0100	20	184	0.1087	-330	c.488 others(17): Show c.488-9256_488-8927del		GRIA4	ENSG00000152578.15	transcript	ENST00000282499.10	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr11	TogoVar
HEATR6_chr17_60036008_60083921	60042727	CGTCCTGT others(323): Show CGTCCTGTGCGGCTGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGTGGC TGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGTGGCTGTGAGGCACCGT CAGCATCCTCGGTCCTGTGCGGCTGTGAGGCACCGTCAGCATCCTCGCGT CCTGTGTGGCTGTGAGGCACCGTCAGCATCCTCGGTCCTGTGCGGCTGTG AGGCACCGTCAGCATCCTCGCGTCCTGTGTGGCTGTGAGGCACTGTCAGC ATCCTCGCGTCCTGTGTGGCTGTGAGGCACCGTCAGCATCCTCGCGTCCT GTGTGGCTGTGAGGCACCGTCAGCATCCTCG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp1 HG03471.hp1 HG02809.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0217 a0002c0002t0023g0218 a0002c0002t0023g0217 a0002c0002t0023g0218	2	250	0.0080	-330	c.50 others(9): Show c.506_*835del		HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20				506		chr17	TogoVar
INPP5A_chr10_132532787_132788480	132764717	TGTGGTGA others(323): Show TGTGGTGACACTCAGGAACACGGTCGGGCCAGTCCTGCTGCGGTGGGAGG GTGTGCGTGGTGACACTCAGAAACACGGTCGGGCCAGTCCTGCAGGGTTG AGAGGGTGTGTGTGGTGACACTCAGAAACACGGCCGGGTCAGTCCTGCTG TGGTGGGAGGGTGTGCGTGGTGACACTCAGGAACACGGTCGGGCCAGTCC TGCAGGGGTGGGAGGGTGTGCGTGGTGACACTCAGGAACACGGTCGGGTC AGTCCTGCTGCGGTGGGAGGGTGTGCGTGGTGACACTCAGGAACACGGCC GGGCCAGTCCTGCAGGGGTGGGAGGGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	204	0.0049	-330	c.904 others(16): Show c.904-1041_904-712del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNIP4_chr4_20723606_21953772	20931872	GATAATAG others(323): Show GATAATAGTCTATAAGAGTCTAATATTGTAGACTATAATAGTCTATAACA GTCTAATATTGTAGACTATAATAGTCTATAACAGTCTAATATTGTAGACT ATAATAGTCTATAACAGTCTAATATTGTAGACTATAATAGTCTATAACAG TCTAATATTGTAGACAATAATAGTCTATAACAGTCTAATATTGTAGACTA TAATAGTCTATAACAGTCTAATATTGTAGACTATAATAGTCTATAACAGT CTAATATTGTAGACTATAATAGTCTATAACAGTCTAATATTGTAGACTAT AATAGTCTATAAGAGTCTAATATTGTAGACT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02809.hp2 others(4): Show HG02280.hp2 HG02572.hp1 HG02809.hp2 HG02886.hp1 HG03041.hp2 HG03579.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0006 a0001c0003t0003	a0001c0001t0001g0005 a0001c0001t0001g0051 a0001c0001t0001g0075 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0051 a0001c0001t0001g0075 a0001c0001t0002g0035 a0001c0001t0011g0003 a0001c0002t0006g0019 a0001c0003t0003g0029	7	80	0.0875	-330	c.62- others(17): Show c.62-49493_62-49164del		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)