Joint Open Genome and Omics Platform (JoGo)

Search 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
PKP3_chr11_389209_409908	401469	CACCCGCC others(56): Show CACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGTTCACAC CCGCCCCGCTCACA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01175.hp2 HG01258.hp1 others(39): Show HG00099.hp1 HG01175.hp2 HG01258.hp1 HG01358.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp2 HG02027.hp2 HG02109.hp1 HG02132.hp2 HG02148.hp1 HG02451.hp2 HG02486.hp1 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG03239.hp1 HG03239.hp2 HG03516.hp2 HG03704.hp1 HG04199.hp1 HG04204.hp2 NA18943.hp1 NA18945.hp1 NA18983.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19054.hp1 NA19067.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA20805.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0008 a0018	a0001c0001 a0001c0005 a0001c0006 others(7): Show a0001c0001 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0001c0018 a0004c0015 a0005c0037 a0008c0024 a0018c0026	a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 others(7): Show a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 a0001c0009t0001 a0001c0011t0001 a0001c0018t0001 a0004c0015t0001 a0005c0037t0005 a0008c0024t0002 a0018c0026t0004	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0015 others(39): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0088 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0005t0001g0090 a0001c0005t0001g0091 a0001c0006t0001g0058 a0001c0006t0001g0060 a0001c0006t0001g0061 a0001c0009t0001g0130 a0001c0011t0001g0033 a0001c0011t0001g0051 a0001c0018t0001g0059 a0004c0015t0001g0042 a0005c0037t0005g0087 a0008c0024t0002g0022 a0018c0026t0004g0092	42	216	0.1944	-63	c.173 others(80): Show c.1737+765_1737+827delACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGTTCACACCCGCCCCGCTCACA		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12						chr11	TogoVar
PKP3_chr11_389209_409908	402234	GACCCCGC others(56): Show GACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGA CCCCGGCCCCGCTC	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02056.hp1 NA18950.hp2 HG02004.hp1 HG02056.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0062 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0062	3	216	0.0139	-63	c.173 others(80): Show c.1738-837_1738-775delCTCACCCCCGACCCCCGGCCCCGCTCAC CCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCG		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PLA2G4D_chr15_42062009_42099562	42096354	TGTGACTA others(56): Show TGTGACTATGTATGCATGTGTGAATGTTTCCAGAGAAGGGGTCTAGAACA GCACAGTCCAGTAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	432	0.0023	-63	c.-19 others(74): Show c.-1958_-1896delCTACTGGACTGTGCTGTTCTAGACCCCTTCTCTG GAAACATTCACACATGCATACATAGTCAC		PLA2G4D	ENSG00000159337.7	transcript	ENST00000290472.4	protein_coding					1793		chr15	TogoVar
PLCH2_chr1_2471289_2510532	2488758	ACCAATGT others(56): Show ACCAATGTCAGGACCCCAGGGCCATTCAGAGGACAGGGTCCCCAGTATCT AGGTCAAAAGGATT	A A	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0116 a0001c0001t0009g0116	1	383	0.0026	-63	c.123 others(80): Show c.1236-447_1236-385delCAATGTCAGGACCCCAGGGCCATTCAGA GGACAGGGTCCCCAGTATCTAGGTCAAAAGGATTC		PLCH2	ENSG00000149527.18	transcript	ENST00000378486.8	protein_coding	8/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
PLD1_chr3_171595404_171815483	171639566	TATATATA others(56): Show TATATATAATATATATTCATATAATATATATTCATATAATATATATTATA TATAATATATATTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02145.hp1 others(3): Show HG01884.hp1 HG01891.hp1 HG02145.hp1 HG03130.hp1 HG03453.hp1 NA20300.hp1	a0001 a0006 a0009 others(1): Show a0001 a0006 a0009 a0012	a0001c0002 a0006c0014 a0009c0012 others(1): Show a0001c0002 a0006c0014 a0009c0012 a0012c0023	a0001c0002t0004 a0006c0014t0011 a0009c0012t0002 others(2): Show a0001c0002t0004 a0006c0014t0011 a0009c0012t0002 a0009c0012t0004 a0012c0023t0011	a0001c0002t0004g0007 a0006c0014t0011g0117 a0006c0014t0011g0180 others(3): Show a0001c0002t0004g0007 a0006c0014t0011g0117 a0006c0014t0011g0180 a0009c0012t0002g0182 a0009c0012t0004g0287 a0012c0023t0011g0079	6	294	0.0204	-63	c.259 others(82): Show c.2593+3211_2593+3273delGAATATATATTATATATAATATATAT TATATGAATATATATTATATGAATATATATTATATAT		PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	23/26						chr3	TogoVar
POU2F1_chr1_167215886_167432340	167324382	CAATGTAA others(56): Show CAATGTAAAATGTGACTTTCAGTGAAAAACGTAAAAATCTTTTGAGTTTT TTATCCAAACTCAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02559.hp1 others(7): Show HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02818.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 NA18522.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0046 a0001c0001t0047 others(1): Show a0001c0001t0005 a0001c0001t0046 a0001c0001t0047 a0001c0001t0062	a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0278 others(7): Show a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0046g0272 a0001c0001t0047g0274 a0001c0001t0062g0275	10	292	0.0343	-63	c.62- others(78): Show c.62-8085_62-8023delTGTAAAATGTGACTTTCAGTGAAAAACGTA AAAATCTTTTGAGTTTTTTATCCAAACTCAAAA		POU2F1	ENSG00000143190.23	transcript	ENST00000367866.7	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
PPIL4_chr6_149499495_149551043	149515265	GCATGAGC others(56): Show GCATGAGCCACTGCACCCAGCCTATTTCTTAAATGATGGATCATACGAAA GAAGACAGCACTCC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0115 a0002c0004t0003g0115	1	306	0.0033	-63	c.107 others(82): Show c.1079+2026_1079+2088delGGAGTGCTGTCTTCTTTCGTATGATC CATCATTTAAGAAATAGGCTGGGTGCAGTGGCTCATG		PPIL4	ENSG00000131013.4	transcript	ENST00000253329.3	protein_coding	11/12						chr6	TogoVar
PPP3CA_chr4_101018418_101352526	101106453	GAGAAAAG others(56): Show GAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AGAAAGAAAGAAAA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0170 a0001c0001t0013g0170	1	192	0.0052	-63	c.384 others(80): Show c.384+2438_384+2500delTTTTCTTTCTTTCTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT		PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13						chr4	TogoVar
PPP6R2_chr22_50338327_50450090	50344798	CAGTCAGT others(56): Show CAGTCAGTTCCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCCAG TCAGTGCCCCCTCT	C C	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0314 a0001c0014t0001g0314	1	340	0.0029	-63	c.-14 others(82): Show c.-148+1264_-148+1326delCAGTCAGTGCCCCCTCTAGTCAGTTC CCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCC		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PRB2_chr12_11386540_11400567	11393877	CTGGTTGC others(56): Show CTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATG GGGGACCTTGAGGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03831.hp1 HG04228.hp1 NA18941.hp1 others(1): Show HG03831.hp1 HG04228.hp1 NA18941.hp1 NA19063.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0002 a0008c0010t0001 a0008c0010t0002	a0008c0010t0001g0052 a0008c0010t0001g0053 a0008c0010t0002g0050 others(1): Show a0008c0010t0001g0052 a0008c0010t0001g0053 a0008c0010t0002g0050 a0008c0010t0002g0051	4	410	0.0098	-63	c.138 others(70): Show c.138_200delACCTCAAGGTCCCCCATCTCCTCCAGGAAAGCCACAAG GACCACCCCCACAAGGAGGCAACCA	p.Pro others(11): Show p.Pro47_Gln67del	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding	3/4	238/1431	138/1251	46/416			chr12	TogoVar
PRB3_chr12_11260914_11274707	11267487	TCCTCCTT others(56): Show TCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGAC CTTGAGGTTTGTTG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(276): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0003 others(14): Show a0000 a0001 a0003 a0008 a0009 a0015 a0016 a0017 a0018 a0021 a0024 a0027 a0029 a0030 a0035 a0036 a0038	a0000c0038 a0001c0001 a0001c0026 others(17): Show a0000c0038 a0001c0001 a0001c0026 a0001c0032 a0001c0044 a0003c0003 a0008c0008 a0009c0009 a0015c0015 a0016c0016 a0017c0027 a0018c0025 a0021c0024 a0024c0047 a0027c0031 a0029c0033 a0030c0035 a0035c0040 a0036c0028 a0038c0043	a0000c0038t0001 a0001c0001t0001 a0001c0001t0003 others(19): Show a0000c0038t0001 a0001c0001t0001 a0001c0001t0003 a0001c0026t0001 a0001c0032t0001 a0001c0044t0001 a0003c0003t0002 a0008c0008t0001 a0009c0009t0001 a0009c0009t0003 a0015c0015t0001 a0016c0016t0001 a0017c0027t0001 a0018c0025t0001 a0021c0024t0002 a0024c0047t0001 a0027c0031t0001 a0029c0033t0002 a0030c0035t0002 a0035c0040t0001 a0036c0028t0003 a0038c0043t0003	a0000c0038t0001g0057 a0001c0001t0001g0001 a0001c0001t0001g0038 others(31): Show a0000c0038t0001g0057 a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0065 a0001c0001t0003g0002 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0064 a0001c0026t0001g0029 a0001c0032t0001g0054 a0001c0044t0001g0062 a0003c0003t0002g0004 a0003c0003t0002g0023 a0003c0003t0002g0033 a0003c0003t0002g0035 a0003c0003t0002g0070 a0008c0008t0001g0009 a0008c0008t0001g0043 a0009c0009t0001g0010 a0009c0009t0003g0047 a0015c0015t0001g0019 a0016c0016t0001g0020 a0017c0027t0001g0030 a0018c0025t0001g0028 a0021c0024t0002g0032 a0024c0047t0001g0063 a0027c0031t0001g0053 a0029c0033t0002g0071 a0030c0035t0002g0073 a0035c0040t0001g0059 a0036c0028t0003g0046 a0038c0043t0003g0061	279	443	0.6298	-63	c.699 others(70): Show c.699_761delCAACAAACCTCAAGGTCCCCCACCTCGTCCAGGAAAGC CAGAAGGACCACCCCCACAAGGAGG	p.Asn others(13): Show p.Asn234_Gly254del	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding	3/4	799/1227	699/1056	233/351			chr12	TogoVar
PRB3_chr12_11260914_11274707	11267550	GCCTCCTT others(56): Show GCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCCGGACGAGGTGGGGGAC CTTGGGACTGGTTT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01167.hp2 HG01169.hp2 HG01261.hp2 others(10): Show HG01167.hp2 HG01169.hp2 HG01261.hp2 HG02145.hp1 HG02145.hp2 HG02559.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 NA18906.hp1 NA20129.hp1 NA21309.hp2	a0005 a0026 a0005 a0026	a0005c0005 a0026c0045 a0005c0005 a0026c0045	a0005c0005t0002 a0026c0045t0002 a0005c0005t0002 a0026c0045t0002	a0005c0005t0002g0007 a0005c0005t0002g0067 a0026c0045t0002g0068 a0005c0005t0002g0007 a0005c0005t0002g0067 a0026c0045t0002g0068	13	443	0.0294	-63	c.636 others(70): Show c.636_698delAAACCAGTCCCAAGGTCCCCCACCTCGTCCGGGAAAGC CAGAAGGACCACCCCCACAAGGAGG	p.Asn others(13): Show p.Asn213_Gly233del	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding	3/4	736/1227	636/1056	212/351			chr12	TogoVar
PRB3_chr12_11260914_11274707	11267713	TGAGGCGG others(56): Show TGAGGCGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTC TGGCTTTCCCGGAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(207): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19076.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0015 a0016 others(5): Show a0001 a0015 a0016 a0020 a0024 a0026 a0027 a0036	a0001c0001 a0001c0026 a0001c0032 others(8): Show a0001c0001 a0001c0026 a0001c0032 a0001c0044 a0015c0015 a0016c0016 a0020c0022 a0024c0047 a0026c0045 a0027c0031 a0036c0028	a0001c0001t0001 a0001c0001t0003 a0001c0026t0001 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0026t0001 a0001c0032t0001 a0001c0044t0001 a0015c0015t0001 a0016c0016t0001 a0020c0022t0001 a0024c0047t0001 a0026c0045t0002 a0027c0031t0001 a0036c0028t0003	a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0040 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0065 a0001c0001t0003g0002 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0064 a0001c0026t0001g0029 a0001c0032t0001g0054 a0001c0044t0001g0062 a0015c0015t0001g0019 a0016c0016t0001g0020 a0020c0022t0001g0037 a0020c0022t0001g0048 a0024c0047t0001g0063 a0026c0045t0002g0068 a0027c0031t0001g0053 a0036c0028t0003g0046	210	443	0.4740	-63	c.473 others(70): Show c.473_535delGTCCGGGAAAGCCAGAAGGACCACCCCCACAAGGAGGA AACCAGTCCCAAGGTCCCCCGCCTC	p.Arg others(13): Show p.Arg158_Pro178del	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding	3/4	573/1227	473/1056	158/351			chr12	TogoVar
PRB3_chr12_11260914_11274707	11267844	CGGGGGAC others(56): Show CGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCT TTCCCGGACGAGGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19007.hp1 NA19057.hp2 NA19007.hp1 NA19057.hp2	a0021 a0021	a0021c0024 a0021c0024	a0021c0024t0002 a0021c0024t0002	a0021c0024t0002g0032 a0021c0024t0002g0032	2	443	0.0045	-63	c.342 others(70): Show c.342_404delACCTCGTCCGGGAAAGCCAGAAGGACCACCCCCACAAG GAGGAAACCAGTCCCAAGGTCCCCC	p.Pro others(13): Show p.Pro115_Pro135del	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding	3/4	442/1227	342/1056	114/351			chr12	TogoVar
PRDM16_chr1_3064203_3443621	3194631	CCGTCTCC others(56): Show CCGTCTCCCCGCCACACGCCACCGTCTCCCCGCCACATGCCACCGTCTGA TCGCCACACGCCAT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0195 a0001c0002t0016g0195	1	210	0.0048	-63	c.387 others(80): Show c.387+8194_387+8256delTGCCACCGTCTGATCGCCACACGCCATC GTCTCCCCGCCACACGCCACCGTCTCCCCGCCACA		PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRH1_chr12_10875965_10889255	10882445	CTGTTGGG others(56): Show CTGTTGGGGTGGTCCTTGTGGCTTTCCCTGAGGAGGTGGTGGACCTTGTT GCTGCTGGCCTCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(297): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0003c0003 a0004c0004 others(4): Show a0001c0001 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0007c0007 a0008c0008	a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 others(4): Show a0001c0001t0001 a0003c0003t0001 a0004c0004t0001 a0005c0005t0001 a0006c0006t0001 a0007c0007t0001 a0008c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0003c0003t0001g0003 a0003c0003t0001g0005 a0003c0003t0001g0011 a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0037 a0004c0004t0001g0008 a0005c0005t0001g0010 a0006c0006t0001g0030 a0007c0007t0001g0031 a0008c0008t0001g0032	300	397	0.7557	-63	c.291 others(70): Show c.291_353delAGGAGGCCAGCAGCAACAAGGTCCACCACCTCCTCAGG GAAAGCCACAAGGACCACCCCAACA	p.Gly others(12): Show p.Gly98_Gln118del	PRH1	ENSG00000231887.9	transcript	ENST00000543626.5	protein_coding	3/4	391/712	291/564	97/187			chr12	TogoVar
PRKCA_chr17_66297613_66815743	66798477	TGGTGGTG others(56): Show TGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGACGGTGGTGACGGTGGTG GTGATGGTGGTGAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0091 a0001c0004t0091	a0001c0004t0091g0135 a0001c0004t0091g0135	1	178	0.0056	-63	c.185 others(82): Show c.1855-5385_1855-5323delACGGTGGTGGTGGTGGTGGTGACGGT GGTGACGGTGGTGGTGATGGTGGTGACGGTGGTGGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66798491	GTGGTGGT others(56): Show GTGGTGGTGGTGGTGGTGACGGTGGTGACGGTGGTGGTGATGGTGGTGAC GGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0039 a0001c0005t0039	a0001c0005t0039g0108 a0001c0005t0039g0108	1	178	0.0056	-63	c.185 others(82): Show c.1855-5364_1855-5302delACGGTGGTGACGGTGGTGGTGATGGT GGTGACGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799484	ATGGTGGT others(56): Show ATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGGT GGTGGTAGTGACGG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02056.hp1 HG01074.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0070 a0001c0001t0007 a0001c0001t0070	a0001c0001t0007g0008 a0001c0001t0070g0063 a0001c0001t0007g0008 a0001c0001t0070g0063	2	178	0.0112	-63	c.185 others(82): Show c.1855-4368_1855-4306delGTGGTGATGGTAATGGTGGTGGTGAT GGTGGTGGTAGTGACGGTGGTGGTGGTGGTGGTGGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799545	CGGTGGTG others(56): Show CGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTG GTGATGGTGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0089 a0001c0001t0021g0089	1	178	0.0056	-63	c.185 others(82): Show c.1855-4311_1855-4249delGTGGTGATGGTGGTGGTGGTGATGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCE_chr2_45646675_46192990	45744437	CTTTCTTT others(56): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03453.hp2 HG01884.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0053 a0001c0001t0002g0019 a0001c0001t0002g0053	2	168	0.0119	-63	c.348 others(82): Show c.348+92017_348+92079delCTTTCTTTCTTTCTTTCTTTCTTTTT CTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTT		PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKD3_chr2_37245502_37329833	37249580	CACACACA others(56): Show CACACACACACACACACACACACAGAGGGGAGATCGCTCCGTTGCACTGT AGCCTGTGATAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0049 a0001c0015t0049	a0001c0015t0049g0254 a0001c0015t0049g0254	1	388	0.0026	-63	c.35 others(74): Show c.3534_*3596delCTCTATCACAGGCTACAGTGCAACGGAGCGATCT CCCCTCTGTGTGTGTGTGTGTGTGTGTGT		PRKD3	ENSG00000115825.11	transcript	ENST00000234179.8	protein_coding					921		chr2	TogoVar
PRLH_chr2_237561574_237572175	237565590	TACACTCA others(56): Show TACACTCACACACACATCTACACATGTACACTCACACACCTACACACATA CACATCTACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	404	0.0025	-63	c.-98 others(72): Show c.-983_-921delACACTCACACACACATCTACACATGTACACTCACAC ACCTACACACATACACATCTACACACA		PRLH	ENSG00000071677.1	transcript	ENST00000165524.1	protein_coding					983		chr2	TogoVar
PTPRZ1_chr7_121868161_122067036	121984778	TGCCGTCT others(56): Show TGCCGTCTGTTTTTTGAAGCTGACACAGTAGTTAAAAGCATTTTTAAATG TCCAGAGAACACAA	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	312	0.0032	-63	c.928 others(78): Show c.928+662_928+724delGCCGTCTGTTTTTTGAAGCTGACACAGTAG TTAAAAGCATTTTTAAATGTCCAGAGAACACAA		PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	8/29						chr7	TogoVar
PYM1_chr12_55896413_55932894	55905924	TATATATC others(56): Show TATATATCTAATAGATATATATATTATTATATATATCTAATAGATATATA TATTATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02559.hp2 others(14): Show HG02145.hp2 HG02257.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03041.hp2 HG03225.hp2 HG03453.hp1 HG03540.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0001 a0001c0002t0002g0017 a0001c0002t0002g0038 others(3): Show a0001c0002t0002g0001 a0001c0002t0002g0017 a0001c0002t0002g0038 a0001c0002t0002g0040 a0001c0002t0005g0037 a0001c0002t0005g0039	17	344	0.0494	-63	c.38- others(78): Show c.38-2507_38-2445delTATATATAATAATATATATATCTATTAGAT ATATATAATAATATATATATCTATTAGATATAT		PYM1	ENSG00000170473.17	transcript	ENST00000408946.7	protein_coding	1/2						chr12	TogoVar
RAD21L1_chr20_1221044_1260876	1258179	ATAAAGCT others(56): Show ATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTTCCTCTTTT CTAATATAAACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0099 a0003c0004t0006g0099	1	364	0.0028	-63	c.37 others(74): Show c.3723_*3785delTAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGA GATCTTTCCTCTTTTCTAATATAAACACG		RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding					2304		chr20	TogoVar
RAP1GAP2_chr17_2791438_3042741	2829240	TTAAAAAG others(56): Show TTAAAAAGTACTGGGATTACAGGCCTGAGCTACCATGCCCGGCCAATTAC TTGCTTTCCTGATG	T T	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0085 a0001c0002t0085	a0001c0002t0085g0026 a0001c0002t0085g0026	1	218	0.0046	-63	c.80+ others(80): Show c.80+28693_80+28755delAAAAGTACTGGGATTACAGGCCTGAGCT ACCATGCCCGGCCAATTACTTGCTTTCCTGATGTA		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RASA2_chr3_141482027_141620344	141610341	ATATATAT others(56): Show ATATATATTTATATTTATATATTATATATTTATATTTATATATTATATAT TTATATTTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(52): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01169.hp1 HG01243.hp1 HG01257.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01975.hp2 HG02074.hp1 HG02135.hp2 HG02145.hp1 HG02451.hp1 HG02572.hp2 HG02602.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG03041.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03486.hp2 HG03654.hp2 HG03704.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 NA18747.hp1 NA18941.hp2 NA18946.hp1 NA18954.hp1 NA18959.hp2 NA18977.hp1 NA18984.hp1 NA18999.hp2 NA19043.hp2 NA19067.hp2 NA19080.hp2 NA19082.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0008t0001	a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0206 others(52): Show a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0003g0213 a0001c0002t0003g0214 a0001c0002t0003g0217 a0001c0002t0003g0218 a0001c0002t0003g0219 a0001c0002t0003g0220 a0001c0002t0003g0221 a0001c0002t0003g0222 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0243 a0001c0002t0003g0244 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0248 a0001c0002t0003g0249 a0001c0002t0003g0250 a0001c0002t0003g0251 a0001c0002t0003g0252 a0001c0002t0003g0253 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0261 a0001c0002t0007g0012 a0001c0002t0007g0013 a0001c0002t0007g0014 a0001c0002t0007g0015 a0001c0008t0001g0211	55	280	0.1964	-63	c.251 others(80): Show c.2519+346_2519+408delTTATATTTATATATTATATATTTATATT TATATATTATATATTTATATTTATATATTATATAT		RASA2	ENSG00000155903.14	transcript	ENST00000286364.9	protein_coding	23/23					INFO_REALIGN_3_PRIME	chr3	TogoVar
RASGEF1B_chr4_81421393_81476907	81476015	GAAGAAAC others(56): Show GAAGAAACTGCAACAACTAAAGGGCAAAACAACCAGCCAGCATCATAATG ACAGGATCAAATTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	316	0.0032	-63	c.-43 others(74): Show c.-4315_-4253delGAATTTGATCCTGTCATTATGATGCTGGCTGGTT GTTTTGCCCTTTAGTTGTTGCAGTTTCTT		RASGEF1B	ENSG00000138670.19	transcript	ENST00000264400.7	protein_coding					4109		chr4	TogoVar
RBBP8NL_chr20_62405237_62432539	62428004	TTCCCTGT others(56): Show TTCCCTGTCTGTAAATTGGGGATAATAAGCTCAAGAGCTGTCCCTGCCAG AACCCAGTGGACAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0178 a0001c0001t0003g0178	1	432	0.0023	-63	c.-69 others(72): Show c.-691_-629delCTGTCCACTGGGTTCTGGCAGGGACAGCTCTTGAGC TTATTATCCCCAATTTACAGACAGGGA		RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding					466		chr20	TogoVar
RBFOX1_chr16_6014024_7718340	6487691	AAAAAAAA others(56): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATATATAT ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0034 a0002c0003t0034	a0002c0003t0034g0061 a0002c0003t0034g0061	1	68	0.0147	-63	c.-63 others(84): Show c.-63-166907_-63-166845delAAAAAATATATATATATATATATA TATATATATATATATATATATATATATATATATATAAAA		RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7008659	TCCTCCCT others(56): Show TCCTCCCTCCCTCCCTTCCTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCC TCCCTCCCTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(14): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00609.hp2 HG00741.hp1 HG01099.hp1 HG01099.hp2 HG01175.hp2 HG01261.hp1 HG02630.hp1 HG02735.hp1 HG02738.hp1 HG03453.hp1 HG03927.hp1 HG03927.hp2 NA18994.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0001t0032 a0001c0004t0001	a0001c0001t0001g0026 a0001c0001t0001g0063 a0001c0001t0001g0067 others(14): Show a0001c0001t0001g0026 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0004g0057 a0001c0001t0007g0039 a0001c0001t0008g0034 a0001c0001t0013g0018 a0001c0001t0017g0014 a0001c0001t0021g0062 a0001c0001t0024g0008 a0001c0001t0032g0068 a0001c0004t0001g0060	17	68	0.2500	-63	c.-15 others(82): Show c.-15-43386_-15-43324delCCCTTCCTCCTCCCTTCCTCCCTCCC TCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT		RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79484471	GTGCAGGG others(56): Show GTGCAGGGGGCCTGGGTGCAGGGGCCTGGGTGCAGGGGGCCTGGGTGCAG GGGGCCTGGGTGCA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	154	0.0065	-63	c.-31 others(82): Show c.-319-1936_-319-1874delTGCACCCAGGCCCCCTGCACCCAGGC CCCCTGCACCCAGGCCCCTGCACCCAGGCCCCCTGCA		RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14						chr17	TogoVar
RBMS2_chr12_56516820_56601193	56595956	TCAACAAC others(56): Show TCAACAACTGACAAGCACTTTTCTACAGCTGCACTTGTGGAACATCACAT GGCAAAAACAGGAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0220 a0001c0001t0058g0220	1	280	0.0036	-63	c.68 others(74): Show c.6824_*6886delCAACAACTGACAAGCACTTTTCTACAGCTGCACT TGTGGAACATCACATGGCAAAAACAGGAG		RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding	14/14				6945		chr12	TogoVar
RFLNA_chr12_124290093_124321024	124295753	CAACCACG others(56): Show CAACCACGAAGGTGGCCAGTGACAGCCACGCTTCTCAGGTGGGGACCAGG GTGTGTAGGGGGAG	C C	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0075 a0001c0002t0002g0075	1	388	0.0026	-63	c.207 others(78): Show c.207+118_207+180delAACCACGAAGGTGGCCAGTGACAGCCACGC TTCTCAGGTGGGGACCAGGGTGTGTAGGGGGAG		RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2						chr12	TogoVar
RFLNA_chr12_124290093_124321024	124310510	TGCAGGGA others(56): Show TGCAGGGAGGGGGAGGTGGACTGCAGGATGGGGTAGGGGTCCTTAGGCCA CTTTCTGTTGAGGA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02897.hp1 others(2): Show HG02109.hp1 HG02257.hp2 HG02897.hp1 HG03471.hp2 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0044 a0001c0004t0002g0045 a0001c0004t0002g0046 others(2): Show a0001c0004t0002g0044 a0001c0004t0002g0045 a0001c0004t0002g0046 a0001c0004t0002g0047 a0001c0004t0002g0066	5	388	0.0129	-63	c.208 others(80): Show c.208-1302_208-1240delGAGGGGGAGGTGGACTGCAGGATGGGGT AGGGGTCCTTAGGCCACTTTCTGTTGAGGAGCAGG		RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr12	TogoVar
RGS12_chr4_3288021_3444913	3385960	CCCTGGGT others(56): Show CCCTGGGTGGCGTCATGGCACACAGGCACTGAGTGGACTGTTGGTGGCTG CCCCCGAGTGTGGT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04184.hp2 NA20905.hp2 HG04115.hp2 HG04184.hp2 NA20905.hp2	a0001 a0017 a0001 a0017	a0001c0002 a0001c0005 a0017c0042 a0001c0002 a0001c0005 a0017c0042	a0001c0002t0001 a0001c0005t0001 a0017c0042t0001 a0001c0002t0001 a0001c0005t0001 a0017c0042t0001	a0001c0002t0001g0224 a0001c0005t0001g0109 a0017c0042t0001g0195 a0001c0002t0001g0224 a0001c0005t0001g0109 a0017c0042t0001g0195	3	312	0.0096	-63	c.199 others(80): Show c.1999-441_1999-379delTGGCACACAGGCACTGAGTGGACTGTTG GTGGCTGCCCCCGAGTGTGGTCCTGGGTGGCGTCA		RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF126_chr19_642526_668214	667276	AGACCAAG others(56): Show AGACCAAGCCCAGGCGGACCACGTCCCAGGCGGACCACGTCCCAGGCGGA CCACGTCCCAGGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00609.hp2 others(52): Show HG00423.hp1 HG00438.hp1 HG00609.hp2 HG00642.hp1 HG00741.hp2 HG01069.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01516.hp2 HG01884.hp2 HG01943.hp1 HG01952.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02273.hp2 HG02698.hp1 HG03704.hp2 HG04204.hp2 NA18951.hp1 NA18955.hp2 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18974.hp1 NA18983.hp2 NA18998.hp1 NA18999.hp1 NA19001.hp1 NA19003.hp2 NA19005.hp2 NA19010.hp2 NA19055.hp1 NA19057.hp2 NA19062.hp1 NA19065.hp2 NA19083.hp2 NA19085.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 a0001c0007t0001 a0001c0008t0001 a0002c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0019 others(47): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0107 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0384 a0001c0001t0001g0386 a0001c0001t0001g0387 a0001c0001t0010g0173 a0001c0002t0001g0002 a0001c0002t0001g0142 a0001c0002t0001g0161 a0001c0002t0001g0167 a0001c0002t0001g0172 a0001c0002t0001g0347 a0001c0007t0001g0160 a0001c0008t0001g0151 a0002c0003t0001g0137 a0002c0003t0001g0147 a0002c0003t0001g0385	55	434	0.1267	-63	c.-42 others(74): Show c.-4218_-4156delCGCCTGGGACGTGGTCCGCCTGGGACGTGGTCCG CCTGGGACGTGGTCCGCCTGGGCTTGGTC		RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding					4063		chr19	TogoVar
RNF144A_chr2_6912412_7049179	6935634	AATGGGAT others(56): Show AATGGGATGGCCTCTCACCTTGTGAGCTCATTTGGCTTCCAGTGTTAATG GTAACAGCATGTAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00639.hp2 others(92): Show HG00099.hp2 HG00323.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp2 HG01515.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG02055.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02965.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18945.hp1 NA18952.hp1 NA18960.hp2 NA18974.hp1 NA18981.hp2 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA19009.hp2 NA19043.hp2 NA19062.hp2 NA19064.hp1 NA19074.hp1 NA19081.hp1 NA19082.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0017 a0001c0001t0024 a0001c0001t0031 a0001c0001t0036 a0001c0001t0040 a0001c0002t0001 a0001c0002t0006 a0001c0002t0008 a0001c0002t0011 a0001c0006t0035 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0007 a0003c0008t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0044 others(91): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0146 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0002g0017 a0001c0001t0002g0093 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0161 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0191 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0003g0020 a0001c0001t0003g0026 a0001c0001t0003g0045 a0001c0001t0003g0141 a0001c0001t0003g0145 a0001c0001t0003g0154 a0001c0001t0003g0159 a0001c0001t0003g0171 a0001c0001t0003g0181 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0004g0011 a0001c0001t0004g0043 a0001c0001t0004g0183 a0001c0001t0004g0193 a0001c0001t0004g0195 a0001c0001t0004g0237 a0001c0001t0009g0258 a0001c0001t0017g0244 a0001c0001t0024g0194 a0001c0001t0031g0235 a0001c0001t0036g0218 a0001c0001t0040g0229 a0001c0002t0001g0046 a0001c0002t0001g0143 a0001c0002t0001g0149 a0001c0002t0001g0151 a0001c0002t0001g0168 a0001c0002t0001g0172 a0001c0002t0001g0180 a0001c0002t0001g0217 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0228 a0001c0002t0001g0236 a0001c0002t0001g0238 a0001c0002t0006g0293 a0001c0002t0008g0156 a0001c0002t0008g0175 a0001c0002t0008g0179 a0001c0002t0008g0196 a0001c0002t0008g0220 a0001c0002t0011g0137 a0001c0002t0011g0169 a0001c0006t0035g0160 a0002c0003t0002g0153 a0002c0003t0003g0001 a0002c0003t0003g0132 a0002c0003t0003g0133 a0002c0003t0003g0140 a0002c0003t0003g0173 a0002c0003t0003g0182 a0002c0003t0003g0227 a0002c0003t0003g0230 a0002c0003t0003g0240 a0002c0003t0004g0164 a0002c0003t0007g0257 a0003c0008t0001g0144	95	310	0.3065	-63	c.-21 others(82): Show c.-211-5227_-211-5165delAGCTCATTTGGCTTCCAGTGTTAATG GTAACAGCATGTAGATGGGATGGCCTCTCACCTTGTG		RNF144A	ENSG00000151692.15	transcript	ENST00000320892.11	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF150_chr4_140854807_141138469	140999942	AAAGAAGA others(56): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAGAAGAAAAGAAG AAAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0051 a0001c0001t0024g0051	1	184	0.0054	-63	c.485 others(82): Show c.485-32132_485-32070delCTTCTTCTTCTTTTCTTCTTTTCTTC TTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT		RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6						chr4	TogoVar
RNF213_chr17_80255852_80403794	80260571	CCGGCGGC others(56): Show CCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGG CAGGGCGGGGCCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0101 a0101	a0101c0111 a0101c0111	a0101c0111t0027 a0101c0111t0027	a0101c0111t0027g0082 a0101c0111t0027g0082	1	292	0.0034	-63	c.-43 others(72): Show c.-439_-377delCGGCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGG CGGCGGCGGCGGGCAGGGCGGGGCCGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding					280		chr17	TogoVar
RNF213_chr17_80255852_80403794	80314736	GTGGTGAT others(56): Show GTGGTGATGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGA GGTAATGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02886.hp2 HG02257.hp1 HG02886.hp2	a0092 a0103 a0092 a0103	a0092c0117 a0103c0120 a0092c0117 a0103c0120	a0092c0117t0026 a0103c0120t0050 a0092c0117t0026 a0103c0120t0050	a0092c0117t0026g0166 a0103c0120t0050g0249 a0092c0117t0026g0166 a0103c0120t0050g0249	2	292	0.0069	-63	c.281 others(82): Show c.2811+1575_2811+1637delATGGTGATGGTGGAGGTACTGGAGGT GATGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315216	GTGGTGGT others(56): Show GTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGTGGACGTGATGGTGGA GGTAATGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0022 a0022	a0022c0126 a0022c0126	a0022c0126t0067 a0022c0126t0067	a0022c0126t0067g0180 a0022c0126t0067g0180	1	292	0.0034	-63	c.281 others(82): Show c.2812-1959_2812-1897delAGGTACTGGAGGTGATGGTGGTGGAC GTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF5_chr6_32173405_32185793	32184580	TCAGGCCA others(56): Show TCAGGCCAGACTGTTGTCTGCAAGGGTGCAATTGGGCCTGCATCATGAAG GCAAGGCTGGGGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01175.hp1 HG02145.hp1 others(26): Show HG00741.hp1 HG01175.hp1 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1 HG04228.hp1 NA18954.hp2 NA18979.hp1 NA18980.hp1 NA19076.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	29	447	0.0649	-63	c.42 others(74): Show c.4255_*4317delCAGGCCAGACTGTTGTCTGCAAGGGTGCAATTGG GCCTGCATCATGAAGGCAAGGCTGGGGAA		RNF5	ENSG00000204308.8	transcript	ENST00000375094.4	protein_coding					3788		chr6	TogoVar
RPH3AL_chr17_207389_357807	264374	CGTTGACA others(56): Show CGTTGACAGCAGGATTACCCTTCGGAGCCGTGCGCGCTGGATGGGGACTC AGAATCTGCAGCAT	C C	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01515.hp1 HG01258.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0116 a0001c0001t0020g0127 a0001c0001t0002g0116 a0001c0001t0020g0127	2	133	0.0150	-63	c.439 others(82): Show c.439-17152_439-17090delATGCTGCAGATTCTGAGTCCCCATCC AGCGCGCACGGCTCCGAAGGGTAATCCTGCTGTCAAC		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	264406	CGCGCTGG others(56): Show CGCGCTGGATGGGGACTCAGAATCTGCAGCATGTTGACAGCAGGATTACC CTTCGGAGCCGCGA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01358.hp1 HG01361.hp2 others(2): Show HG00280.hp2 HG01358.hp1 HG01361.hp2 HG02738.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 a0001c0002t0002	a0001c0001t0001g0065 a0001c0001t0003g0098 a0001c0001t0013g0107 others(2): Show a0001c0001t0001g0065 a0001c0001t0003g0098 a0001c0001t0013g0107 a0001c0001t0014g0025 a0001c0002t0002g0038	5	133	0.0376	-63	c.439 others(82): Show c.439-17184_439-17122delTCGCGGCTCCGAAGGGTAATCCTGCT GTCAACATGCTGCAGATTCTGAGTCCCCATCCAGCGC		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9						chr17	TogoVar
RPLP2_chr11_804967_817876	816670	CCAGGCTG others(56): Show CCAGGCTGACGTGCAGAGGCGCAATCATGGCTCACCCCCACCCAGCCCAG ACTCAGTCCATCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	428	0.0023	-63	c.38 others(74): Show c.3835_*3897delCAGGCTGACGTGCAGAGGCGCAATCATGGCTCAC CCCCACCCAGCCCAGACTCAGTCCATCCT		RPLP2	ENSG00000177600.9	transcript	ENST00000321153.9	protein_coding					3795		chr11	TogoVar
RPTOR_chr17_80539838_80971368	80840930	GCTCACTC others(56): Show GCTCACTCTCTCTGCACCGCAGCTCACACTCACCGCACGGCAGCTCACAT TCACCACACGGCAA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02630.hp1 HG02723.hp2 others(2): Show HG01074.hp1 HG02630.hp1 HG02723.hp2 HG02809.hp2 HG03139.hp1	a0001 a0001	a0001c0007 a0001c0011 a0001c0038 others(1): Show a0001c0007 a0001c0011 a0001c0038 a0001c0045	a0001c0007t0084 a0001c0011t0047 a0001c0011t0062 others(2): Show a0001c0007t0084 a0001c0011t0047 a0001c0011t0062 a0001c0038t0007 a0001c0045t0091	a0001c0007t0084g0007 a0001c0011t0047g0076 a0001c0011t0062g0114 others(2): Show a0001c0007t0084g0007 a0001c0011t0047g0076 a0001c0011t0062g0114 a0001c0038t0007g0178 a0001c0045t0091g0036	5	196	0.0255	-63	c.121 others(82): Show c.1212+2943_1212+3005delTCTGCACCGCAGCTCACACTCACCGC ACGGCAGCTCACATTCACCACACGGCAACTCACTCTC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80841236	CGCACGGC others(56): Show CGCACGGCAGCTCACTCTCACCGCACCGCAGCTCACTCTCACCGCACGGC AGCTCACTCTCACA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG01255.hp1 others(3): Show HG00423.hp1 HG00544.hp1 HG01255.hp1 NA19007.hp2 NA19066.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0017 a0001c0018 others(3): Show a0001c0002 a0001c0017 a0001c0018 a0001c0022 a0001c0061 a0001c0090	a0001c0002t0040 a0001c0017t0015 a0001c0018t0017 others(3): Show a0001c0002t0040 a0001c0017t0015 a0001c0018t0017 a0001c0022t0022 a0001c0061t0009 a0001c0090t0001	a0001c0002t0040g0105 a0001c0017t0015g0082 a0001c0018t0017g0140 others(3): Show a0001c0002t0040g0105 a0001c0017t0015g0082 a0001c0018t0017g0140 a0001c0022t0022g0095 a0001c0061t0009g0040 a0001c0090t0001g0161	6	196	0.0306	-63	c.121 others(82): Show c.1212+3254_1212+3316delTCTCACCGCACCGCAGCTCACTCTCA CCGCACGGCAGCTCACTCTCACAGCACGGCAGCTCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RSPO3_chr6_127113671_127204481	127176556	CAAACAAA others(56): Show CAAACAAATACAAAGAATAAGCTTTTAAAAAACTACAGTGGGTTTTCATG TCTAGGAAAACAAT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	310	0.0032	-63	c.635 others(82): Show c.635-19265_635-19203delAACAAATACAAAGAATAAGCTTTTAA AAAACTACAGTGGGTTTTCATGTCTAGGAAAACAATA		RSPO3	ENSG00000146374.14	transcript	ENST00000356698.9	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr6	TogoVar