Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NAP1L4_chr11_2939437_2997329	2996570	ACTGAGTT others(136): Show ACTGAGTTACAGGTTTCAGGCTACTTTGTATCTCATTAAAGACACCTCTC CATGCAGCCGCCATTATCACACTAACAAAATTAGCAAAAATCTTGACTGT CATCCAATACCTGGTCATTCAAATTTCTTGAAATTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	335	0.0030	-143	c.-44 others(11): Show c.-4477_-4335del	NAP1L4	ENSG00000205531.14	transcript	ENST00000380542.9	protein_coding		4242		chr11	TogoVar
NCAPG2_chr7_158626169_158709804	158667608	TCCTTACC others(136): Show TCCTTACCTACCCTGTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCT CCGCCTTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACT GGGTCCCTCCGCCCTCCTTACCTACCCTGTGGCCCTCCGCCCTC	T T	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	378	0.0027	-143	c.148 others(19): Show c.1480-3001_1480-2859del	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NEU4_chr2_241804193_241822413	241805903	TCCCCCCT others(136): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0149 a0002c0003t0002g0149	1	319	0.0031	-143	c.-33 others(11): Show c.-3374_-3232del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3289		chr2	TogoVar
NLRP8_chr19_55942832_55993629	55993464	CCCTCTCT others(136): Show CCCTCTCTCCCCCCTCCCTCCCCCTCTCCCCCCTCCCCTCCTCTCCCCCC TCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCTCTCCCCTCCTCTCCTCCCCCCTCCTCCTCTCAACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01123.hp2 HG02280.hp1 others(6): Show HG00733.hp2 HG01123.hp2 HG02280.hp1 HG02300.hp1 HG02965.hp1 HG03017.hp2 NA18946.hp2 NA18966.hp1 NA19080.hp2	a0000 a0000	a0000c0001 a0000c0002 a0000c0007 others(1): Show a0000c0001 a0000c0002 a0000c0007 a0000c0069	a0000c0001t0001 a0000c0001t0007 a0000c0001t0022 others(5): Show a0000c0001t0001 a0000c0001t0007 a0000c0001t0022 a0000c0002t0001 a0000c0002t0004 a0000c0007t0005 a0000c0007t0012 a0000c0069t0001	a0000c0001t0001g0008 a0000c0001t0007g0053 a0000c0001t0022g0068 others(6): Show a0000c0001t0001g0008 a0000c0001t0007g0053 a0000c0001t0022g0068 a0000c0002t0001g0006 a0000c0002t0001g0329 a0000c0002t0004g0305 a0000c0007t0005g0270 a0000c0007t0012g0269 a0000c0069t0001g0018	9	350	0.0257	-143	c.55 others(11): Show c.5552_*5694del	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4836		chr19	TogoVar
NSMF_chr9_137442570_137464334	137450844	CGCCACGC others(136): Show CGCCACGCCTCTTCCTTTTGATCTCCCCCCCACACCTCTTCCCCTTGATC TCCCCCCCACGCCTCTTCCCCTTGATCTCCCCCTCCACACGCCTCTTCCC CTTGATCTTCCCCTGCCCCTCGTCTCTTCCCCTTGATCTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02896.hp1 others(4): Show HG02630.hp2 HG02647.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03209.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0074 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0074	7	414	0.0169	-143	c.123 others(17): Show c.1237-732_1237-590del	NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15			chr9	TogoVar
OR12D2_chr6_29390631_29403008	29396120	TATCTTCC others(136): Show TATCTTCCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(340): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 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.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0005 a0001c0007 others(11): Show a0001c0001 a0001c0005 a0001c0007 a0001c0013 a0002c0002 a0003c0003 a0003c0008 a0004c0004 a0006c0012 a0007c0010 a0008c0011 a0009c0009 a0010c0015 a0011c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0005t0004 a0001c0007t0002 a0001c0013t0001 a0002c0002t0002 a0003c0003t0002 a0003c0003t0003 a0003c0008t0002 a0004c0004t0002 a0006c0012t0003 a0007c0010t0001 a0008c0011t0001 a0009c0009t0006 a0010c0015t0001 a0011c0014t0002	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0005g0001 a0001c0005t0004g0005 a0001c0007t0002g0007 a0001c0007t0002g0009 a0001c0013t0001g0001 a0002c0002t0002g0002 a0002c0002t0002g0016 a0003c0003t0002g0002 a0003c0003t0003g0002 a0003c0008t0002g0002 a0004c0004t0002g0002 a0006c0012t0003g0002 a0007c0010t0001g0001 a0008c0011t0001g0001 a0009c0009t0006g0001 a0010c0015t0001g0001 a0011c0014t0002g0007	343	455	0.7539	-143	c.-3+ others(13): Show c.-3+319_-2-422del	OR12D2	ENSG00000280236.3	transcript	ENST00000642051.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
P2RX5_chr17_3668227_3701155	3686365	TCCCCCGC others(136): Show TCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCC CCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGA GAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0025 a0002c0002t0004g0025	1	362	0.0028	-143	c.981 others(17): Show c.981+1504_981+1646del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PAQR5_chr15_69293912_69412780	69300606	TTTCTTTC others(136): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCT TTCTTTCTTTCATTCTTTCTCTTCCTTCCTCCCTCCCTCTCTCTCTCTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	284	0.0035	-143	c.-27 others(19): Show c.-277+1559_-277+1701del	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PC_chr11_66843420_66963383	66873193	AGCCAGGC others(136): Show AGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGGTGA GGCATGAGAATCACTTGAGCCTGGGAGGTGGAGGTTGCAGTGAGCTGAGA TGGCACCACTGTACCAGTCTGGGTGACACAGCAAGACTCCATCT	A A	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	274	0.0037	-143	c.1-1 others(13): Show c.1-1177_1-1035del	PC	ENSG00000173599.15	transcript	ENST00000393960.7	protein_coding	3/22			chr11	TogoVar
PDE2A_chr11_72571141_72679422	72637009	TGCTCCAT others(136): Show TGCTCCATGGAGTGGTGCTGCCACAGGCTCTCCTCCCTCTGTCTGCCACC AGCGAACCTTCACAGTAACCATTCTCTCCCCTCTGTCCAGAACTTTCTCC TGGCTTGACCTTAGCTCTCAGTTCAGATTTGTTTCCTCCTGGAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02615.hp2 others(15): Show HG02258.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 others(5): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 a0001c0003t0001 a0001c0003t0005 a0001c0003t0008 a0001c0005t0004 a0001c0006t0001	a0001c0001t0001g0105 a0001c0001t0009g0264 a0001c0001t0015g0112 others(15): Show a0001c0001t0001g0105 a0001c0001t0009g0264 a0001c0001t0015g0112 a0001c0003t0001g0106 a0001c0003t0001g0107 a0001c0003t0001g0109 a0001c0003t0001g0111 a0001c0003t0001g0217 a0001c0003t0001g0263 a0001c0003t0005g0022 a0001c0003t0005g0023 a0001c0003t0005g0118 a0001c0003t0008g0262 a0001c0005t0004g0019 a0001c0005t0004g0020 a0001c0005t0004g0021 a0001c0005t0004g0110 a0001c0006t0001g0108	18	292	0.0616	-143	c.144 others(17): Show c.144+5102_144+5244del	PDE2A	ENSG00000186642.16	transcript	ENST00000334456.10	protein_coding	2/30			chr11	TogoVar
PHACTR1_chr6_12711767_13292837	13231256	AAGAAAGA others(136): Show AAGAAAGAAGGAAAGAGAAAGAAGGAAAGAGAAAGAGAGAGCGAAAGAGA AGGAGGGAGGGAGGAAGGAAAGAAGGAAGGAAGGAAGGGGAAAGAAAGAA GGAAAGAGAGAAAGAAAGAAGGAAAGAGAAAGAAAGAAGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp2 HG02717.hp1 HG02572.hp1 HG02647.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0063 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0063	3	108	0.0278	-143	c.139 others(19): Show c.1391+1085_1391+1227del	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PITPNC1_chr17_67372281_67702256	67436078	CAATTCCT others(136): Show CAATTCCTGGGCTCAAGGGATCCTCCTGCTTCAGCCTCCCAAGTAGCTGG GACTACAGATGTGTGCCACCACACCCAGCCACCCAGCTAATTTTTAAATT TTTTGTAGAGACAGGGTCTCACTTTCTTGCCCAGGCTGGTCTTA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0177 a0001c0001t0007g0177	1	218	0.0046	-143	c.48+ others(17): Show c.48+57886_48+58028del	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PPP2R2D_chr10_131896008_131964834	131952998	GTGCAGGG others(136): Show GTGCAGGGGGTTCACTGTCTTAGTGACTTGCGGGTGTGCAGGGGGTTTCA CTGTCTTAGCAGTGACTTGCGGGTGTGTGTGGGAGGTTCACTGTCTTAGC AGTGACTTGCGGGGGTTCCCTGTCTTAGCAGTGACTTGCAGGTT	G G	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	394	0.0025	-143	c.108 others(19): Show c.1083-2682_1083-2540del	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R3B_chrX_328933_391907	339801	GGAGGAGC others(136): Show GGAGGAGCCGGAGGGGGTGAGAGGGGAGGAGCCGGGGGGGGGTGAGAGGG GAGGAGCCGGGGGGGGGTGAGAGGGGAGGAGCCGGGGGGGGGTGAGAGGG GAGGAGCTGGGGGGGGTGAGAGGGGAGGAGCCGGGGGGGTGAGA	G G	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0013 a0002c0003t0003g0013	1	25	0.0400	-143	c.135 others(17): Show c.1351+821_1352-906del	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	10/12			chrX	TogoVar
PPP6R2_chr22_50338327_50450090	50397689	GGGGGGCC others(136): Show GGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGA GAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTC ATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01106.hp1 HG01516.hp2 others(1): Show HG00423.hp2 HG01106.hp1 HG01516.hp2 HG01517.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0012 a0001c0002 a0008c0012	a0001c0002t0003 a0008c0012t0020 a0001c0002t0003 a0008c0012t0020	a0001c0002t0003g0002 a0001c0002t0003g0003 a0001c0002t0003g0068 others(1): Show a0001c0002t0003g0002 a0001c0002t0003g0003 a0001c0002t0003g0068 a0008c0012t0020g0043	4	340	0.0118	-143	c.227 others(17): Show c.227+3605_227+3747del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PSMA7_chr20_62131733_62148394	62148220	TGCTCGGC others(136): Show TGCTCGGCCTCCTTGCTGTCTTAGGTCAGGTGAGGGAGGCTCGGCCTCCT TGCTGTCTTAGGTCAGGTGAGGGAGGCTTGGCCTCCTTGCTGTCTTAGGT GAGGGAGGCTTGGCCTCCTTGCTCTCTTCGGTCAGGTGAGGGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	362	0.0028	-143	c.-50 others(11): Show c.-5060_-4918del	PSMA7	ENSG00000101182.15	transcript	ENST00000370873.9	protein_coding		4827		chr20	TogoVar
RBM25_chr14_73053534_73128899	73085316	CTCATCAG others(136): Show CTCATCAGTAGTCTGTTTTGAAGAATTCTGTCATTCTTTTATTGAGGAAC AAATCTTTTTCATATATTAGTAGAATGCTTCTCTATGGAGAAAGTTGCCC CTGCATCTACTGTTTGGTAACTTAGAGGCATTTTTGTTGTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00735.hp1 HG00738.hp2 others(40): Show HG00423.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01261.hp1 HG01358.hp2 HG02027.hp1 HG02055.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02523.hp2 HG02622.hp1 HG03017.hp2 HG03225.hp2 HG04228.hp1 NA18612.hp2 NA18941.hp2 NA18942.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18964.hp1 NA18980.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18994.hp1 NA18998.hp1 NA19056.hp1 NA19063.hp1 NA19064.hp2 NA19067.hp2 NA19070.hp1 NA19085.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0009 a0001c0002t0017 others(1): Show a0001c0002t0003 a0001c0002t0009 a0001c0002t0017 a0001c0002t0033	a0001c0002t0003g0001 a0001c0002t0003g0247 a0001c0002t0003g0248 others(37): Show a0001c0002t0003g0001 a0001c0002t0003g0247 a0001c0002t0003g0248 a0001c0002t0003g0249 a0001c0002t0003g0252 a0001c0002t0003g0253 a0001c0002t0003g0255 a0001c0002t0003g0256 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0263 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0275 a0001c0002t0003g0276 a0001c0002t0003g0277 a0001c0002t0003g0278 a0001c0002t0003g0279 a0001c0002t0003g0282 a0001c0002t0003g0371 a0001c0002t0009g0250 a0001c0002t0009g0264 a0001c0002t0009g0280 a0001c0002t0009g0281 a0001c0002t0009g0283 a0001c0002t0009g0284 a0001c0002t0017g0251 a0001c0002t0017g0257 a0001c0002t0033g0254	43	388	0.1108	-143	c.382 others(17): Show c.382+1766_382+1908del	RBM25	ENSG00000119707.14	transcript	ENST00000261973.12	protein_coding	5/18			chr14	TogoVar
RPUSD3_chr3_9832849_9849008	9837019	TGGAGGGT others(136): Show TGGAGGGTAGCCTGCCTGGGCAACATACTGAGACCCTGCTTTAAAAAATA TAATAGAGTAAGAAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCA CATTGGCGGGGGGTGGGTGCCAAAACAGGTGGATTGCTTGAGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02004.hp2 HG00438.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	452	0.0044	-143	c.85 others(9): Show c.854_*996del	RPUSD3	ENSG00000156990.14	transcript	ENST00000383820.10	protein_coding		829		chr3	TogoVar
SAMD11_chr1_918923_949574	934542	GGGAGGCT others(136): Show GGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGT GGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTT ACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0024 a0002c0003t0024	a0002c0003t0024g0233 a0002c0003t0024g0233	1	434	0.0023	-143	c.843 others(17): Show c.843-1227_843-1085del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARDH_chr9_133658560_133743352	133669092	CCCTCACC others(136): Show CCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCC CTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCT CACCCTCCATCTCCCTCACCCTCCCTCTCCCTTACCCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0136 a0001c0006t0001g0136	1	262	0.0038	-143	c.249 others(19): Show c.2495+1349_2495+1491del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCUBE1_chr22_43192280_43348372	43281312	CCTCTTTG others(136): Show CCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTC CCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCT CAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCATCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0113 a0002c0002t0002g0113	1	280	0.0036	-143	c.484 others(17): Show c.484+9591_484+9733del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281345	AGTCACCC others(136): Show AGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGC TATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCC TCCTGTCATCTCCCTCAGCCACCCTCCTGTCACCTCCCTCTTTG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02080.hp1 HG02083.hp1 others(4): Show HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02165.hp2 HG06807.hp2 NA19065.hp2 NA19066.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0045 a0002c0002 a0002c0005 others(2): Show a0001c0045 a0002c0002 a0002c0005 a0003c0001 a0006c0015	a0001c0045t0003 a0002c0002t0002 a0002c0002t0007 others(3): Show a0001c0045t0003 a0002c0002t0002 a0002c0002t0007 a0002c0005t0001 a0003c0001t0001 a0006c0015t0007	a0001c0045t0003g0060 a0002c0002t0002g0106 a0002c0002t0002g0250 others(4): Show a0001c0045t0003g0060 a0002c0002t0002g0106 a0002c0002t0002g0250 a0002c0002t0007g0047 a0002c0005t0001g0049 a0003c0001t0001g0179 a0006c0015t0007g0028	7	280	0.0250	-143	c.484 others(17): Show c.484+9558_484+9700del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SEC14L1_chr17_77135969_77222101	77215955	TTAGGTAG others(136): Show TTAGGTAGGGTTCGTAGGTAGGGTTAGTAGGTAGGGCTAGTAGGTAGGGT TCGTAGGTAGGGTTCGTAGGTAGGGCTAGTAGGTAGGGTTAGTAGGTAGG GCTAGTAGGTAGGGCTAGTAGGTAGGGTTAGTAGGTAGGGCTAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02486.hp1 HG01891.hp1 HG02109.hp1 HG02486.hp1	a0001 a0008 a0001 a0008	a0001c0005 a0008c0011 a0001c0005 a0008c0011	a0001c0005t0036 a0001c0005t0037 a0008c0011t0036 a0001c0005t0036 a0001c0005t0037 a0008c0011t0036	a0001c0005t0036g0017 a0001c0005t0037g0016 a0008c0011t0036g0018 a0001c0005t0036g0017 a0001c0005t0037g0016 a0008c0011t0036g0018	3	430	0.0070	-143	c.20 others(11): Show c.2061_*2203del	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	17/17	2061	INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC39A14_chr8_22362278_22427736	22396389	GAGAGAGA others(136): Show GAGAGAGAGAGAGAGAGAGAGAGAGGGGGGGGGGAGAGAGAGAGAGAGAG AGAGAGAGAGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0026 a0002c0010t0026	a0002c0010t0026g0276 a0002c0010t0026g0276	1	324	0.0031	-143	c.-15 others(17): Show c.-15-8306_-15-8164del	SLC39A14	ENSG00000104635.15	transcript	ENST00000359741.10	protein_coding	1/8			chr8	TogoVar
SLIT2_chr4_20246905_20625561	20593999	CACACACA others(136): Show CACACACATACATATGTATGTGTGTATATATGTGTATATATGTACATATG TACATATTCTGCAAAGCCTGAATTCTGCAGAGCTAAGTTATACTTTTCTC ATATATACACATATATATACACATGTGCATATATATACATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp2 HG01884.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0087 a0001c0001t0002g0088	2	230	0.0087	-143	c.318 others(19): Show c.3183-1665_3183-1523del	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	30/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPPL2B_chr19_2323684_2360095	2347479	CCACACAC others(136): Show CCACACACACTCACGCACTCTTATTCGCCTGATTCCGTTCTCTCCCTCCA CACACACACTCACGCGCTCTCATTCGCTTGATGCCGTTCTCTCTCCACAC ACACTCACGCACTCTCATTCGCCTGATTCCGTTCTCTCCCTCCA	C C	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18994.hp1 NA19086.hp2 HG02165.hp1 NA18994.hp1 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0076 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0076	3	414	0.0073	-143	c.135 others(19): Show c.1354+2165_1354+2307del	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SS18L1_chr20_62138769_62187514	62148220	TGCTCGGC others(136): Show TGCTCGGCCTCCTTGCTGTCTTAGGTCAGGTGAGGGAGGCTCGGCCTCCT TGCTGTCTTAGGTCAGGTGAGGGAGGCTTGGCCTCCTTGCTGTCTTAGGT GAGGGAGGCTTGGCCTCCTTGCTCTCTTCGGTCAGGTGAGGGAG	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	316	0.0032	-143	c.69+ others(15): Show c.69+4496_69+4638del	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
TBC1D22A_chr22_46757650_47180693	46940716	ACACACAC others(136): Show ACACACACACAGTCCACCCTTGAACAGCATGGAGGCTGGGGCACTAGCAC ACATATATATGTACATATACAGTCCACCCTTGAACAGCATGGGGACCGGG GCACTAGAATATATATATATATATATGTATGTATGTATATATAC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00597.hp1 others(18): Show HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00741.hp2 HG01069.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG02027.hp1 HG02074.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02717.hp2 HG02896.hp1 HG03239.hp1 HG04199.hp1 NA18980.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0024 a0001c0002t0005 a0003c0007t0001	a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0057 others(18): Show a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0002g0099 a0001c0001t0003g0031 a0001c0001t0003g0073 a0001c0001t0003g0081 a0001c0001t0003g0088 a0001c0001t0003g0102 a0001c0001t0004g0070 a0001c0001t0010g0013 a0001c0001t0012g0062 a0001c0001t0013g0054 a0001c0001t0014g0065 a0001c0001t0016g0060 a0001c0001t0018g0089 a0001c0001t0024g0017 a0001c0002t0005g0011 a0003c0007t0001g0064	21	112	0.1875	-143	c.101 others(21): Show c.1015+28582_1015+28724del	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF12_chr15_56913644_57294853	57170635	TATATATA others(136): Show TATATATAATATATATATTATATAAAATATATATATATATAATATATTAT ATATAATATATATTATATATAATATATAATATATATATTATATATTATAT ATAATATATATTATATATTATATATTATATATATATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	330	0.0030	-143	c.390 others(17): Show c.390+4177_390+4319del	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
THOP1_chr19_2780503_2820807	2817764	TCAGAGCA others(136): Show TCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATA ACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGAC CAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG03453.hp1 HG03486.hp2 others(3): Show HG02647.hp1 HG03453.hp1 HG03486.hp2 HG03669.hp1 NA18964.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0076 others(3): Show a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0076 a0001c0001t0002g0185 a0001c0001t0002g0214 a0001c0001t0002g0229	6	370	0.0162	-143	c.44 others(11): Show c.4489_*4631del	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		1958		chr19	TogoVar
THSD7B_chr2_136760545_137682718	136890379	CTTCCTCT others(136): Show CTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTTCTTCTCCTTTCT TCTCCTTTCTTCTCCTTTCTTCTCCTTTCTTCTTCTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02965.hp2 others(3): Show HG02630.hp1 HG02647.hp1 HG02965.hp2 HG03195.hp2 NA18961.hp2 NA19000.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0001c0012 others(2): Show a0001c0001 a0001c0005 a0001c0012 a0002c0003 a0003c0014	a0001c0001t0003 a0001c0005t0002 a0001c0012t0004 others(3): Show a0001c0001t0003 a0001c0005t0002 a0001c0012t0004 a0002c0003t0017 a0003c0014t0002 a0003c0014t0018	a0001c0001t0003g0081 a0001c0005t0002g0021 a0001c0012t0004g0011 others(3): Show a0001c0001t0003g0081 a0001c0005t0002g0021 a0001c0012t0004g0011 a0002c0003t0017g0082 a0003c0014t0002g0001 a0003c0014t0018g0094	6	98	0.0612	-143	c.139 others(17): Show c.139+8063_139+8205del	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27			chr2	TogoVar
THSD7B_chr2_136760545_137682718	136890382	CCTCTTCC others(136): Show CCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTTCTTCTCCTTTCTTCT CCTTTCTTCTCCTTTCTTCTCCTTTCTTCTTCTTCTTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00735.hp1 HG00738.hp2 others(10): Show HG00609.hp1 HG00735.hp1 HG00738.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01515.hp1 HG03041.hp1 HG03669.hp2 NA18747.hp1 NA18990.hp2 NA19000.hp2 NA19084.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0001c0005 others(6): Show a0001c0001 a0001c0004 a0001c0005 a0001c0017 a0002c0016 a0002c0020 a0003c0002 a0004c0007 a0004c0008	a0001c0001t0002 a0001c0001t0010 a0001c0004t0002 others(9): Show a0001c0001t0002 a0001c0001t0010 a0001c0004t0002 a0001c0005t0010 a0001c0017t0001 a0002c0016t0001 a0002c0020t0004 a0003c0002t0003 a0003c0002t0009 a0004c0007t0001 a0004c0007t0008 a0004c0008t0001	a0001c0001t0002g0025 a0001c0001t0010g0087 a0001c0004t0002g0039 others(10): Show a0001c0001t0002g0025 a0001c0001t0010g0087 a0001c0004t0002g0039 a0001c0005t0010g0078 a0001c0017t0001g0045 a0002c0016t0001g0028 a0002c0020t0004g0068 a0003c0002t0003g0088 a0003c0002t0009g0089 a0004c0007t0001g0044 a0004c0007t0008g0048 a0004c0007t0008g0049 a0004c0008t0001g0040	13	98	0.1327	-143	c.139 others(17): Show c.139+8068_139+8210del	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1432577	GAGGAGAG others(136): Show GAGGAGAGGCCTGCAGGTGGGGTGAGGCCTGCAGGTGAGGGGAGGCCTGC AGGTGAGGGGAGGCCTGCAGGTGAGGAGAGGCCTGCAGGTGGGGTGAGGC CTGCAGGTGGGGTGAGGCCTGCAGGTGAGGTGAGGCCCCAGGTA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02015.hp1 NA18962.hp1 others(1): Show HG00408.hp1 HG02015.hp1 NA18962.hp1 NA19058.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0003c0003 a0006c0013 a0002c0002 a0003c0003 a0006c0013	a0002c0002t0007 a0003c0003t0005 a0006c0013t0007 others(1): Show a0002c0002t0007 a0003c0003t0005 a0006c0013t0007 a0006c0013t0012	a0002c0002t0007g0121 a0003c0003t0005g0066 a0006c0013t0007g0122 others(1): Show a0002c0002t0007g0121 a0003c0003t0005g0066 a0006c0013t0007g0122 a0006c0013t0012g0067	4	130	0.0308	-143	c.180 others(15): Show c.180-842_180-700del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1531178	GCAACCTC others(136): Show GCAACCTCCCCAAATCCCCACACTGTCTGCAACCACCCCAAATCGCCCCC ACTGTGTGCAACCGCCTCATATTCCCCCCACTGTGTGGACCCTTCTCAAA TCCCCCCTAATGTCAGCAACTTCCCTAAATCCCCCAACTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG02015.hp1 HG00408.hp1 HG00558.hp2 HG02015.hp1	a0002 a0006 a0010 a0002 a0006 a0010	a0002c0002 a0006c0013 a0010c0010 a0002c0002 a0006c0013 a0010c0010	a0002c0002t0007 a0006c0013t0007 a0010c0010t0007 a0002c0002t0007 a0006c0013t0007 a0010c0010t0007	a0002c0002t0007g0121 a0006c0013t0007g0122 a0010c0010t0007g0081 a0002c0002t0007g0121 a0006c0013t0007g0122 a0010c0010t0007g0081	3	130	0.0231	-143	c.261 others(19): Show c.2619-9398_2619-9256del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1533637	CCCATCCC others(136): Show CCCATCCCTTCCAGTTTGTGCACCCCCCCAAATCCCCCCACTATGTGACA CCTCCTCAAATCCCCCCACTGTGAGCAACCTCCTGAAATCCCTCTCACTG CGTGCAACTTCCTCAAATTCCTCCCCCACTCTGAGTAGCCTCCT	C C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0004 a0007c0021t0004	a0007c0021t0004g0031 a0007c0021t0004g0031	1	130	0.0077	-143	c.261 others(19): Show c.2619-6955_2619-6813del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TTLL3_chr3_9805262_9841365	9837019	TGGAGGGT others(136): Show TGGAGGGTAGCCTGCCTGGGCAACATACTGAGACCCTGCTTTAAAAAATA TAATAGAGTAAGAAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCA CATTGGCGGGGGGTGGGTGCCAAAACAGGTGGATTGCTTGAGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02004.hp2 HG00438.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0278 a0001c0001t0001g0001 a0001c0001t0001g0278	2	400	0.0050	-143	c.15 others(11): Show c.1531_*1673del	TTLL3	ENSG00000214021.18	transcript	ENST00000685419.1	protein_coding		655		chr3	TogoVar
TXK_chr4_48061393_48139250	48104342	TATAATAT others(136): Show TATAATATATAATATAATATATAATATATATAATATATAATATTATATAT AATATATATAATATATAATATTATATATAATATATATAATATATAATATT ATATATAATATATATAATATATAATATTATATATTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0188 a0001c0001t0004g0188	1	362	0.0028	-143	c.501 others(15): Show c.501+416_501+558del	TXK	ENSG00000074966.11	transcript	ENST00000264316.9	protein_coding	6/14			chr4	TogoVar
UBAC2_chr13_99195854_99391504	99242487	CGGCTGGC others(136): Show CGGCTGGCCGGGCGGGGGGCTGCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGTCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCAGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01109.hp1 HG02602.hp2 others(3): Show HG00544.hp1 HG01109.hp1 HG02602.hp2 HG03491.hp1 HG04184.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0001 a0001c0001t0002 a0001c0001t0013	a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0002g0234 others(3): Show a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0002g0234 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0013g0325	6	380	0.0158	-143	c.160 others(17): Show c.160-1339_160-1197del	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
ZNF253_chr19_19860882_19899674	19885247	CTTTCTTT others(136): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTT CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTCCTTTCTTTTCTTTCTTTTCTTTCTTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp2 others(153): Show HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03491.hp1 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp2 NA18992.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0002 a0001c0004 a0001c0006 others(4): Show a0001c0002 a0001c0004 a0001c0006 a0002c0003 a0003c0005 a0004c0007 a0009c0014	a0001c0002t0002 a0001c0002t0012 a0001c0002t0020 others(15): Show a0001c0002t0002 a0001c0002t0012 a0001c0002t0020 a0001c0004t0006 a0001c0004t0007 a0001c0004t0011 a0001c0006t0002 a0002c0003t0002 a0002c0003t0005 a0002c0003t0010 a0002c0003t0013 a0002c0003t0018 a0002c0003t0019 a0002c0003t0023 a0002c0003t0024 a0003c0005t0002 a0004c0007t0002 a0009c0014t0002	a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0010 others(131): Show a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0019 a0001c0002t0002g0052 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0115 a0001c0002t0002g0120 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0129 a0001c0002t0002g0296 a0001c0002t0002g0298 a0001c0002t0002g0313 a0001c0002t0002g0318 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0012g0016 a0001c0002t0012g0293 a0001c0002t0020g0136 a0001c0004t0006g0015 a0001c0004t0006g0234 a0001c0004t0006g0235 a0001c0004t0006g0237 a0001c0004t0006g0238 a0001c0004t0006g0239 a0001c0004t0006g0240 a0001c0004t0006g0241 a0001c0004t0006g0242 a0001c0004t0006g0243 a0001c0004t0006g0256 a0001c0004t0006g0257 a0001c0004t0006g0259 a0001c0004t0006g0260 a0001c0004t0006g0263 a0001c0004t0007g0007 a0001c0004t0007g0272 a0001c0004t0007g0273 a0001c0004t0007g0277 a0001c0004t0007g0278 a0001c0004t0007g0284 a0001c0004t0007g0285 a0001c0004t0011g0279 a0001c0004t0011g0280 a0001c0004t0011g0281 a0001c0004t0011g0282 a0001c0006t0002g0006 a0001c0006t0002g0068 a0001c0006t0002g0119 a0001c0006t0002g0121 a0001c0006t0002g0128 a0002c0003t0002g0312 a0002c0003t0005g0008 a0002c0003t0005g0017 a0002c0003t0005g0018 a0002c0003t0005g0286 a0002c0003t0005g0287 a0002c0003t0005g0288 a0002c0003t0005g0289 a0002c0003t0005g0291 a0002c0003t0005g0292 a0002c0003t0005g0294 a0002c0003t0005g0295 a0002c0003t0005g0297 a0002c0003t0005g0299 a0002c0003t0005g0300 a0002c0003t0005g0301 a0002c0003t0005g0302 a0002c0003t0005g0303 a0002c0003t0005g0305 a0002c0003t0005g0307 a0002c0003t0005g0310 a0002c0003t0005g0314 a0002c0003t0005g0315 a0002c0003t0005g0316 a0002c0003t0005g0319 a0002c0003t0005g0320 a0002c0003t0005g0329 a0002c0003t0005g0331 a0002c0003t0005g0336 a0002c0003t0005g0337 a0002c0003t0010g0008 a0002c0003t0010g0304 a0002c0003t0010g0308 a0002c0003t0010g0309 a0002c0003t0010g0327 a0002c0003t0010g0330 a0002c0003t0013g0311 a0002c0003t0013g0317 a0002c0003t0018g0137 a0002c0003t0019g0139 a0002c0003t0023g0290 a0002c0003t0024g0306 a0003c0005t0002g0005 a0003c0005t0002g0012 a0003c0005t0002g0051 a0003c0005t0002g0055 a0003c0005t0002g0063 a0003c0005t0002g0072 a0003c0005t0002g0110 a0003c0005t0002g0111 a0003c0005t0002g0112 a0003c0005t0002g0113 a0003c0005t0002g0114 a0003c0005t0002g0116 a0003c0005t0002g0127 a0004c0007t0002g0053 a0004c0007t0002g0054 a0009c0014t0002g0010	156	370	0.4216	-143	c.226 others(17): Show c.226+5117_226+5259del	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF487_chr10_43432111_43488181	43465006	CCCACCTC others(136): Show CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0147 a0001c0001t0003g0147	1	332	0.0030	-143	c.-93 others(19): Show c.-93-10712_-93-10570del	ZNF487	ENSG00000243660.12	transcript	ENST00000437590.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZNF516_chr18_76352682_76500242	76392800	CCAGGTGG others(136): Show CCAGGTGGGGGAAAGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02615.hp2 HG02055.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0073 a0001c0002t0090 a0001c0001t0073 a0001c0002t0090	a0001c0001t0073g0020 a0001c0002t0090g0119 a0001c0001t0073g0020 a0001c0002t0090g0119	2	346	0.0058	-143	c.181 others(21): Show c.1811-12640_1811-12498del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393112	GGGGAGGG others(136): Show GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02027.hp1 others(1): Show HG01069.hp1 HG01071.hp1 HG02027.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0018 a0001c0001t0086 a0001c0001t0017 a0001c0001t0018 a0001c0001t0086	a0001c0001t0017g0285 a0001c0001t0018g0025 a0001c0001t0018g0132 others(1): Show a0001c0001t0017g0285 a0001c0001t0018g0025 a0001c0001t0018g0132 a0001c0001t0086g0099	4	346	0.0116	-143	c.181 others(21): Show c.1811-12952_1811-12810del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393117	GGGCAGGT others(136): Show GGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18941.hp1 HG01952.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0014 a0001c0001t0012 a0001c0001t0014	a0001c0001t0012g0295 a0001c0001t0014g0052 a0001c0001t0012g0295 a0001c0001t0014g0052	2	346	0.0058	-143	c.181 others(21): Show c.1811-12957_1811-12815del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393301	GGGGAAGG others(136): Show GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0054 a0001c0026t0054	a0001c0026t0054g0037 a0001c0026t0054g0037	1	346	0.0029	-143	c.181 others(21): Show c.1811-13141_1811-12999del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393396	GAAGGCAG others(136): Show GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCG GGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAG GGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0101 a0002c0054t0101	a0002c0054t0101g0100 a0002c0054t0101g0100	1	346	0.0029	-143	c.181 others(21): Show c.1811-13236_1811-13094del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393402	AGGTGGTC others(136): Show AGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19091.hp1 NA19057.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0169 a0001c0001t0002 a0001c0001t0169	a0001c0001t0002g0279 a0001c0001t0169g0195 a0001c0001t0002g0279 a0001c0001t0169g0195	2	346	0.0058	-143	c.181 others(21): Show c.1811-13242_1811-13100del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF554_chr19_2814868_2841735	2817764	TCAGAGCA others(136): Show TCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATA ACTAAGGTCAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGAC CAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG03453.hp1 HG03669.hp1 others(3): Show HG02647.hp1 HG03453.hp1 HG03669.hp1 NA18964.hp2 NA19074.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0001c0013 others(1): Show a0001c0004 a0001c0006 a0001c0013 a0002c0005	a0001c0004t0003 a0001c0006t0008 a0001c0006t0025 others(2): Show a0001c0004t0003 a0001c0006t0008 a0001c0006t0025 a0001c0013t0023 a0002c0005t0004	a0001c0004t0003g0240 a0001c0006t0008g0312 a0001c0006t0008g0316 others(3): Show a0001c0004t0003g0240 a0001c0006t0008g0312 a0001c0006t0008g0316 a0001c0006t0025g0295 a0001c0013t0023g0047 a0002c0005t0004g0039	6	410	0.0146	-143	c.-23 others(11): Show c.-2307_-2165del	ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding		2103		chr19	TogoVar
ZNF723_chr19_22827291_22863667	22862495	AATATAAT others(136): Show AATATAATATATATATTATATATGTAATATAATATATAATATATGTAATA TAATATATATTATATATGTAATATAATATATATTATATATGTAATATAAT ATATATTATATATGTAATATAATATATTATATATATATTATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0249 a0002c0006t0001g0249	1	364	0.0028	-143	c.40 others(11): Show c.4063_*4205del	ZNF723	ENSG00000268696.3	transcript	ENST00000600766.3	protein_coding		3829		chr19	TogoVar
ZRANB3_chr2_135191969_135536218	135465182	GACTTATC others(136): Show GACTTATCAAAGAACACCAAGGTAAAATATCAAAGATTCAGAAACCTTTA GTTCTGGTCCTGTTTTAAAGTTCATGTAAACATTTCCCCCTTAACTCATG GTTACCTAATTTTGTCATTATCTTACCCATTGGTTCCTATGACA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00741.hp2 HG01070.hp2 others(74): Show HG00408.hp1 HG00741.hp2 HG01070.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01346.hp1 HG01433.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02056.hp1 HG02080.hp1 HG02109.hp1 HG02132.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02818.hp1 HG02965.hp2 HG03017.hp1 HG03209.hp2 HG03453.hp2 HG03490.hp2 HG03491.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18947.hp1 NA18952.hp2 NA18959.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp1 NA18979.hp1 NA18982.hp1 NA18986.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA19001.hp2 NA19004.hp2 NA19007.hp2 NA19058.hp2 NA19064.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19083.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0007 a0008	a0002c0002 a0002c0003 a0003c0004 others(3): Show a0002c0002 a0002c0003 a0003c0004 a0004c0006 a0007c0014 a0008c0011	a0002c0002t0002 a0002c0002t0006 a0002c0003t0003 others(6): Show a0002c0002t0002 a0002c0002t0006 a0002c0003t0003 a0003c0004t0002 a0003c0004t0010 a0003c0004t0012 a0004c0006t0002 a0007c0014t0002 a0008c0011t0002	a0002c0002t0002g0006 a0002c0002t0002g0018 a0002c0002t0002g0020 others(74): Show a0002c0002t0002g0006 a0002c0002t0002g0018 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0043 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0006g0009 a0002c0002t0006g0010 a0002c0002t0006g0015 a0002c0002t0006g0016 a0002c0002t0006g0017 a0002c0002t0006g0019 a0002c0002t0006g0022 a0002c0002t0006g0205 a0002c0003t0003g0059 a0002c0003t0003g0060 a0002c0003t0003g0072 a0002c0003t0003g0073 a0002c0003t0003g0074 a0002c0003t0003g0075 a0002c0003t0003g0076 a0002c0003t0003g0077 a0002c0003t0003g0078 a0002c0003t0003g0103 a0002c0003t0003g0104 a0003c0004t0002g0007 a0003c0004t0002g0008 a0003c0004t0002g0036 a0003c0004t0002g0037 a0003c0004t0002g0038 a0003c0004t0002g0039 a0003c0004t0002g0040 a0003c0004t0002g0041 a0003c0004t0002g0042 a0003c0004t0002g0044 a0003c0004t0002g0045 a0003c0004t0002g0046 a0003c0004t0002g0047 a0003c0004t0002g0048 a0003c0004t0002g0049 a0003c0004t0002g0051 a0003c0004t0002g0052 a0003c0004t0002g0053 a0003c0004t0010g0050 a0003c0004t0010g0054 a0003c0004t0010g0055 a0003c0004t0012g0001 a0003c0004t0012g0002 a0004c0006t0002g0011 a0004c0006t0002g0013 a0004c0006t0002g0014 a0004c0006t0002g0025 a0004c0006t0002g0026 a0004c0006t0002g0027 a0004c0006t0002g0028 a0004c0006t0002g0029 a0004c0006t0002g0030 a0004c0006t0002g0031 a0004c0006t0002g0032 a0004c0006t0002g0033 a0004c0006t0002g0034 a0004c0006t0002g0109 a0007c0014t0002g0012 a0008c0011t0002g0035	77	214	0.3598	-143	c.161 others(19): Show c.161+39004_161+39146del	ZRANB3	ENSG00000121988.18	transcript	ENST00000264159.11	protein_coding	2/20			chr2	TogoVar
ADAMTS12_chr5_33518535_33896990	33849009	TATATATA others(135): Show TATATATATGTATTGCATAGCAATATATATATATGTATTGCATAGCAATA TATATATATGTATTGCATAGCAATATATATATGTATTGCATAGCAATATA TATATGTATTGCATAGCAATATATATATATGTATTGCATAGCA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG03486.hp1 HG01891.hp2 HG02486.hp1 HG03486.hp1	a0003 a0009 a0031 a0003 a0009 a0031	a0003c0005 a0009c0045 a0031c0044 a0003c0005 a0009c0045 a0031c0044	a0003c0005t0006 a0009c0045t0008 a0031c0044t0024 a0003c0005t0006 a0009c0045t0008 a0031c0044t0024	a0003c0005t0006g0086 a0009c0045t0008g0085 a0031c0044t0024g0087 a0003c0005t0006g0086 a0009c0045t0008g0085 a0031c0044t0024g0087	3	224	0.0134	-142	c.489 others(19): Show c.489+31968_489+32109del	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar

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